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About NBDC Human Database

An enormous amount of human data is being generated with advances in next-generation sequencing and other analytical technologies. We therefore need rules and mechanisms for organizing and storing such data and for effectively utilizing them to make progress in the life sciences.

To promote sharing and utilization of human data while considering the protection of personal information, the Database Center for Life Science (DBCLS) of the Joint Support-Center for Data Science Research, Research Organization of Information and Systems (ROIS-DS) created a platform for sharing various data generated from human specimens, which are available for publicly access in cooperation with the DNA Data Bank of JapanDDBJ logo ddbj 2013.

You can apply to use or submit human data through this website.

Violators of the guidelines who have not submitted a report on the deletion of Controlled-access data shall be disclosed here.

NBDC Research ID: hum0030.v5

 

SUMMARY

Aims: To clarify the biological difference between clear cell carcinoma and other histological subtypes in ovarian carcinomas by comparing copy number variants, and to identify molecular subtypes and carcinogenesis in clear cell ovarian carcinomas by whole-exome sequencing and RNA-sequencing. Then, characterize high-grade serous carcinomas by NGS-based, integrative genomic analyses, with focus on homologous recombination deficiency, molecular subtypes, and prognostic factors and effectiveness of PARP inhibitor. Based on the results of whole-exome sequencing, an investigator-initiated, phase 2 clinical trial will be conducted to evaluate the efficacy and safety of the PARP inhibitor olaparib in HRD-positive cases.

Understanding the immune regulatory mechanisms in endometrial cancer is crucial for improving immunotherapy strategies. To elucidate the relationship between the tumor immune microenvironment and HLA class I expression, with a particular focus on their impact on CD8+ T cell infiltration patterns. By investigating the molecular basis of immune evasion across different histological and molecular subtypes, we will generate evidence that will contribute to the development of personalized immunotherapy strategies.

Methods:

Copy Number Variation Analysis: Gene Chip Human Mapping 250K Nsp Arrays were used for detecting the signal intensity of about 260 thousands SNPs and intensities of ovarian clear cell carcinoma were compared to the ones of non-carcinoma.

Whole Exome sequencing and RNA-seq

Methylation array and Expression array

Target bisulfite sequencing

Participants/Materials: Ovarian cancer: 57 cases (12 endometrioid carcinoma) + 111 cases + 31 + 189 cases, Endometrial cancer: 86 cases

 

Dataset IDType of DataCriteriaRelease Date
JGAS000022 Copy Number Variations in cancer genome Controlled-access (Type I) 2015/04/21
JGAS000560 NGS (Exome, RNA-seq) Controlled-access (Type I) 2024/05/10
JGAS000560 (Data addition) Methylation array, Expression array Controlled-access (Type I) 2024/07/05
JGAS000789 NGS (Exome) Controlled-access (Type I) 2025/07/01
JGAS000897 NGS (Target bisulfite-seq) Controlled-access (Type I) 2026/04/22

*Release Note

* Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

 

MOLECULAR DATA

JGAS000022

Participants/Materials:

Surgical samples were obtained from 57 patients

(31 clear cell carcinomas, 14 serous adenocarcinomas, and 12 endometrioid adenocarcinomas)

Targets genome wide CNVs
Target Loci for Capture Methods

-

Platform Affymetrix [GeneChip Human Mapping 250K Nsp Array]
Source gDNAs extracted from ovarian cancer cells and peripheral blood cells
Cell Lines -
Library Construction (kit name) GeneChip Human Mapping 250K Nsp Array
Algorithm for detecting CNVs (software) genome imbalance map (GIM) algorithm (doi:10.1016/j.bbrc.2005.06.040)
CNV number 262,264 CNVs
Japanese Genotype-phenotype Archive Dataset ID JGAD000022
Total Data Volume 17.5 GB
Comments (Policies) NBDC policy

 

Exome (JGAS000560)

Participants/Materials

High-grade serous ovarian carcinoma (ICD10: C56.12): 78 cases

    (tumor tissue: 82 samples, non-tumor tissue: 78 samples)

Ovarian clear cell adenocarcinoma (ICD10: C56.14): 78 cases

    (tumor tissue: 78 samples, non-tumor tissue: 78 samples)

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2000]
Library Source DNAs extracted from tumor tissues and non-tumor tissues (peripheral blood cells)
Cell Lines -
Library Construction (kit name) SureSelect Human All Exon kit v4, SureSelect Human All Exon kit v5
Fragmentation Methods Ultrasonic fragmentation (Covaris)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp x 2
Mapping Methods BWA, Novoalign
Mapping Quality MAPQ>20
Reference Genome Sequence hg19
Coverage (Depth) tumor 115.6, normal 108.4
Japanese Genotype-phenotype Archive Dataset ID JGAD000682
Total Data Volume 5.6 TB (fastq, bam)
Comments (Policies) NBDC policy

 

RNA-seq

Participants/Materials

High-grade serous ovarian carcinoma (ICD10: C56.12): 77 cases

    (tumor tissue: 77 samples)

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2000]
Library Source RNAs extracted from tumor tissues
Cell Lines -
Library Construction (kit name) TruSeq Stranded mRNA LT Sample Prep Kit
Fragmentation Methods Including library prep kit protocol
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp x 2
Mapping Methods STAR (V.2.5.2a)
Mapping Quality MAPQ>20
Reference Genome Sequence hg19
Detecting method for read count (software) Cufflinks (v2.1.1)
QC Methods -
Gene Number 38,515 genes
Japanese Genotype-phenotype Archive Dataset ID JGAD000682
Total Data Volume 5.6 TB (fastq, bam, csv [FPKM])
Comments (Policies) NBDC policy

 

Methylation array

Participants/Materials:

High-grade serous ovarian carcinoma (ICD10: C56.12): 97 cases

    (tumor tissue: 92 samples, non-tumor tissue: 5 samples)

Ovarian clear cell adenocarcinoma (ICD10: C56.14): 85 cases

    (tumor tissue: 82 samples, non-tumor tissue: 3 samples)

Targets Methylation array
Target Loci for Capture Methods

-

Platform Illumina [Infinium HumanMethylation450 BeadChip]
Source DNAs extracted from tumor tissues and non-tumor tissues (peripheral blood cells)
Cell Lines -
Library Construction (kit name) Infinium HumanMethylation450 BeadChip
Algorithms for Calculating Methylation-rate (software) Genome Studio
Filtering Methods -
Normalization of methylation array Following the standard protocol of Genome Studio
Probe Number 485577
Japanese Genotype-phenotype Archive Dataset ID JGAD000682
Total Data Volume 2.9 GB (txt)
Comments (Policies) NBDC policy

 

Expression array

Participants/Materials:

Ovarian clear cell adenocarcinoma (ICD10: C56.14): 89 cases

    (tumor tissue: 89 samples)

Targets Expression array
Target Loci for Capture Methods

-

Platform Affymetrix [GeneChip® Human Genome U133 Plus 2.0 Array]
Source RNAs extracted from tumor tissues
Cell Lines -
Library Construction (kit name) GeneChip® 3’ IVT Express Kit
Filtering Methods -
Analysis Software GeneChip® Operating Software (GCOS, Affymetrix)
Japanese Genotype-phenotype Archive Dataset ID JGAD000682
Total Data Volume 2.9 GB (CEL)
Comments (Policies) NBDC policy

 

Exome (JGAS000789)

Participants/Materials

Ovarian cancer (ICD10: C56, D391): 189 cases (tumor tissue: 190, non-tumor tissue: 189)

    Ovarian High-Grade Serous Carcinoma: 161 cases (tumor tissue: 162, non-tumor tissue 161)

    Ovarian Endometrioid Carcinoma: 5 cases (tumor tissue: 5, non-tumor tissue 5)

    Ovarian Carcinosarcoma: 2 cases (tumor tissue: 2, non-tumor tissue 2)

    Ovarian De-differentiated Carcinoma: 2 cases (tumor tissue: 2, non-tumor tissue 2)

    Ovarian Clear Cell Carcinoma: 10 cases (tumor tissue: 10, non-tumor tissue 10)

    Ovarian Metastatic Tumors: 4 cases (tumor tissue: 4, non-tumor tissue 4)

    Ovarian Borderline Tumors: 2 cases (tumor tissue: 2, non-tumor tissue 2)

    Ovarian Mucinous Carcinoma/Borderline: 3 cases (tumor tissue: 3, non-tumor tissue 3)

    Ovarian Low-Grade Serous Carcinoma: 1 case (tumor tissue: 1, non-tumor tissue 1)

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [NextSeq 500]
Library Source DNAs extracted from tumor tissues and non-tumor tissues (peripheral blood cells)
Cell Lines -
Library Construction (kit name) Custom-made probes were designed to hybridize and capture the genomic DNA of the target genes of 4327 single nucleotide polymorphisms within the targeted gene regions.
Fragmentation Methods -
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp x 2
Mapping Methods BWA, Novoalign
Mapping Quality MAPQ>20
Reference Genome Sequence hg38
Coverage (Depth) tumor 152.0, normal 81.5
Japanese Genotype-phenotype Archive Dataset ID JGAD000931
Total Data Volume 6.4 TB (fastq, bam)
Comments (Policies) NBDC policy

 

Target bisulfite sequencing

Participants/Materials

Endometrial cancer (ICD10: C549): 86 cases

      tumor tissue (frozen uterine corpus): 86 samples

Targets Target bisulfite sequencing
Target Loci for Capture Methods HLA-A (chr6:29,943,268-29,943,632)
Platform Illumina [MiSeq]
Library Source DNAs extracted from tumor tissues
Cell Lines -
Library Construction (kit name) NEBNext Ultra II DNA Library Prep Kit for Illumina
Fragmentation Methods PCR
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 251 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD001041
Total Data Volume 1.7 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Katsutoshi Oda

Affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, The University of Tokyo

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number

KAKENHI Grant-in-Aid for Scientific Research (S)

An Integrated Genomic Analysis on Evolution of Cancer Cell Population

24221011

KAKENHI Grant-in-Aid for Scientific Research (C)

Search for the New Molecular Targeted Therapies and Biomarkers Inducing Apoptosis in Endometrial Carcinoma and Ovarian Carcinoma

26462515

KAKENHI Grant-in-Aid for Young Scientists (B)

Search for the New Molecular Targeted Therapies Based on Genetic Profiles of Ovarian Clear Cell Carcinoma

25861473

Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT)

Development of the Intractable Cancer Therapies through the New Target Identification by the Molecular Profiling (The Identification of the Gene Variation to Regulate the Treatment Sensitivity of the Progressive Ovarian Cancer)

11114014
KAKENHI Grant-in-Aid for Young Scientists (B) Carcinogenesis and Disorder of SWI/SNF Chromatin Remodeling Complex in Ovarian Clear Cell Carcinoma 22K16873
KAKENHI Grant-in-Aid for Scientific Research (C) Investigation of Novel Molecularly Targeted Therapies Focusing on Homologous Recombination Repair Defeciency in Ovarian Cancer 18K09249
KAKENHI Grant-in-Aid for Scientific Research (B) Clinical utility of genetic analysis and organoid-based drug sensitivity testing in ovarian cancer. 21H03074
KAKENHI Grant-in-Aid for Scientific Research (B) Development of a Drug-Sensitive Methylation Diagnostic Kit and Application to Liquid Biopsy for Ovarian/Uterine Cancer 24K02584

 

PUBLICATIONS

TitleDOIDataset ID
1 Integrated Copy Number and Expression Analysis Identifies Profiles of Whole-Arm Chromosomal Alterations and Subgroups with Favorable Outcome in Ovarian Clear Cell Carcinomas doi: 10.1371/journal.pone.0128066 JGAD000022
JGAD000682
2 The frequency of neoantigens per somatic mutation rather than overall mutational load or number of predicted neoantigens per se is a prognostic factor in ovarian clear cell carcinoma doi: 10.1080/2162402X.2017.1338996 JGAD000682
3 Neoantigen load and HLA-class I expression identify a subgroup of tumors with a T-cell-inflamed phenotype and favorable prognosis in homologous recombination-proficient high-grade serous ovarian carcinoma doi: 10.1136/jitc-2019-000375 JGAD000682
4 Integrated genomic/epigenomic analysis stratifies subtypes of clear cell ovarian carcinoma, highlighting their cellular origin doi: 10.1038/s41598-024-69796-4 JGAD000682
5 HLA class I dysregulation and immune microenvironment across endometrial cancer molecular subtypes JGAD001041

 

USERS (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
Ikuo Konishi Kyoto University JGAD000022 2015/07/13-2017/03/31
Masaki Mandai Kyoto University Faculty of Medicene, department of Gynecology and Obstetrics Integrated analyses of omics (genomics, transcriptomics, proteomics and metabolomics) associated with clinical variables for developing indivisualizedtreatment in gynecological malignancy JGAD000022 2018/10/04-2025/03/31
Noriomi Matsumura Department of Obstetrics and Gynecology, Faculty of Medicine, Kindai University Japan Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 JGAD000022, JGAD000682 2024/10/15-2027/12/31
Ken Yamaguchi Gynecology and Obstetrics, Graduate School of Medicine and Faculty of Medicine, Kyoto University Japan Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 JGAD000022, JGAD000682 2024/10/22-2027/12/31
Ryusuke Murakami Gynecology and Obstetrics, Graduate School of Medicine and Faculty of Medicine, Kyoto University Japan Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 JGAD000931 2025/09/26-2027/12/31
Noriomi Matsumura Department of Obstetrics and Gynecology, Faculty of Medicine, Kindai University Japan Integrated multi-omics analysis for ovarian clear cell adenocarcinoma: JGOG3017-TR1 JGAD000931 2025/09/29-2027/12/31

hum0030 Release Note

Research IDRelease DateType of Data
hum0030.v5 2026/04/22 NGS (Target bisulfite-seq)
hum0030.v4 2025/07/01 NGS (Exome)
hum0030.v3 2024/07/05 Methylation array, Expression array
hum0030.v2 2024/05/10 NGS (Exome, RNA-seq)
hum0030.v1 2015/04/21 CNV analysis using 57 ovarian carcinoma patients

 

hum0030.v5

DNAs extracted from tumor tissues of 86 endometrial cancer patients were used for the HLA-A region targeted bisulfite sequencing analysis. Fastq files are provided.

 

hum0030.v4

DNAs extracted from tumor and non-tumor tissues of 189 ovarian cancer patients were used for the whole exome sequencing analyses. Fastq and bam files are provided.

 

hum0030.v3

DNAs/RNAs extracted from tumor and non-tumor tissues of high-grade serous ovarian carcinoma or ovarian clear cell adenocarcinoma patients were used for the methylation array and expression array analyses. Txt and CEL files are provided.

 

hum0030.v2

DNAs/RNAs extracted from tumor and non-tumor tissues of high-grade serous ovarian carcinoma or ovarian clear cell adenocarcinoma patients were used for the whole exome sequencing and RNA sequencing analyses. Fastq, bam, and csv files are provided.

 

hum0030.v1

Signal intensities for 260K CNVs of 57 ovarian carcinomas were decided by using of GeneChip Human Mapping 250K Nsp Arrays (Affymetrix) (CEL files).

 

Note:

hum0201 Release Note

Research IDRelease DateType of Data
hum0201.v9 2026/04/21 NGS (Exome, RNA-seq)
hum0201.v8 2024/08/28 NGS (Exome, RNA-seq, scRNA-seq, ATAC-seq, ChIP-seq)
hum0201.v7 2022/12/27 Processed data of JGAD000335 by JGA
hum0201.v6 2022/08/05 NGS (scRNA-seq, RNA-seq, Exome)
hum0201.v5 2022/06/06 NGS (RNA-seq)
hum0201.v4 2021/11/19 NGS (RNA-seq, ChIP-seq)
hum0201.v3 2020/11/20 NGS (RNA-seq)
hum0201.v2 2020/10/06 NGS (WGS, RNA-seq)
hum0201.v1 2019/12/20 NGS (Exome)

 

hum0201.v9

DNAs/RNAs extracted from organoids established from normal and tumor tissues of the patients with colon cancer, duodenal adenoma and stomach cancer or a healthy individual or genetically engineered organoids were used for the whole exome and RNA sequencing analyses. Fastq files are provided.

 

hum0201.v8

DNAs/RNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids were used for the whole exome, RNA, scRNA, ATAC and ChIP sequencing analyses. Fastq and bed files are provided.

 

hum0201.v7

The alignment results [CRAM], variant call results per sample [gVCF], and variant call results per dataset [aggregated VCF] processed JGAD000335 in a certain workflow were provided. If you plan to use the data, please indicate both original data (JGAD000335) and processed data (JGAD000687) on the application form for data use.

 

hum0201.v6

RNAs extracted from normal colonic tissue from a neoplastic disease patient was used for the single cell RNA sequencing analysis. DNAs and RNAs extracted from organoids established from healthy normal colonic tissues of the patients were used for the whole genome and RNA sequencing analyses. Fastq files are provided.

 

hum0201.v5

RNAs extracted from organoids derived from colon cancer tissues from neoplastic disease patients were used for the RNA sequencing analysis. Fastq files are provided.

 

hum0201.v4

DNAs and RNAs extracted from organoids established from colon cancer tissues and a normal epithelial tissue of the patients were used for RNA sequencing and ChIP-seq analyses. Fastq files are provided.

 

hum0201.v3

Gene expression of 2D normal duodenum organoids with or without medium rotation was analyzed. Total RNA was extracted from organoids with or without a four-day medium rotation, and after 0, 1, 2 or 4 days of medium rotation, and sequenced with HiSeq X Ten. Fastq files are provided.

 

hum0201.v2

DNAs and RNAs extracted from peripheral blood cells and organoids established from normal and cancer tissues of the patients were used for the whole genome and RNA sequencing analysis. Fastq files are provided.

 

hum0201.v1

DNAs extracted from inflammatory/tumor tissues from gastrointestinal inflammatory disease patients, peripheral blood cells from patients/controls, and the organoids established from epithelial tissues from patients were used for the whole exome sequencing analysis. Fastq files are provided.

 

Note:

NBDC Research ID: hum0201.v9

 

SUMMARY

Aims: Search for differences in genomics and traits among normal cells, digestive non-tumor cells (inflammatory cells), and tumor cells

Methods:

JGAS000199: The organoids were established from epithelial tissues from patients, and cultured. DNAs were extracted from the organoids and peripheral blood cells. Whole exome sequencing analysis was performed to identify the somatic mutations.

JGAS000237: Organoids were established from tissue samples (normal and cancer) obtained from any cancer patients. The organoids were cultured, and DNA / RNA was extracted from the organoids for whole genome / RNA sequencing analysis to identify the somatic mutations. Blood samples were substituted when normal tissue samples were not available.

JGAS000256: RNA was extracted from the 2D-cultured normal duodenal organoids with or without medium rotation. RNA sequencing was performed to identify the changes in gene expression after culture medium rotation.

JGAS000378: RNA sequencing and Chip-seq analysis for the organoids derived from colon cancer tissues and a normal epithelial tissue from patients

JGAS000350: RNA sequencing analysis for the organoids derived from colon cancer tissues

JGAS000550: single cell RNA sequencing analysis for normal colonic tissue and RNA sequencing or Whole Exome sequencing analyses for the organoids derived from healthy normal colonic tissues in the neoplastic disease patient

JGAS000719: Organoids were derived from surgically resected specimens, endoscopic ultrasound-guided fine needle aspiration samples, brushing samples, pleural effusion, and ascites of patients with pancreatic cancer. Genetically engineered human pancreatic duct organoids were made by introducing cancer gene mutations in duct organoids using CRISPR-Cas9. DNAs/RNAs were extracted from the organoids for whole exome sequencing, RNA sequencing, single cell RNA sequencing, ATAC sequencing, and ChIP sequencing analyses.

JGAS000881: Organoids were established from the tumor and normal counterpart of patients with duodenal tumor. Also, organoids were established from healthy ileum, colon or duodenum of patients with colon cancer, stomach cancer or a healthy individual and were further genetically engineered with CRISPR-Cas9. DNAs/RNAs were extracted from the organoids for whole exome sequencing and RNA sequencing analyses.

Participants/Materials:

JGAS000199: Controls who underwent colonoscopy, gastrointestinal inflammatory disease patients, and neoplastic disease patients

JGAS000237: Neoplastic disease patients

JGAS000256: Normal duodenum tissue from a neoplastic disease patient

JGAS000378: Colon cancer tissues and a normal epithelial tissue from neoplastic disease patients

JGAS000350: Neoplastic disease patient

JGAS000550: Neoplastic disease patient

JGAS000719: Pancreatic cancer patients

JGAS000881: Colon cancer patients, duodenal adenoma patients, a stomach cancer patient and a healthy individual

 

Dataset IDType of DataCriteriaRelease Date
JGAS000199 NGS (Exome) Controlled-access (Type I) 2019/12/20
JGAS000237 NGS (WGS, RNA-seq) Controlled-access (Type I) 2020/10/06
JGAS000256 NGS (RNA-seq) Controlled-access (Type I) 2020/11/20
JGAS000378 NGS (RNA-seq, ChIP-seq) Controlled-access (Type I) 2021/11/19
JGAS000350 NGS (RNA-seq) Controlled-access (Type I) 2022/06/06
JGAS000550 NGS (scRNA-seq, RNA-seq, Exome) Controlled-access (Type I) 2022/08/05
JGAD000687 Processed data of JGAD000335 by JGA Controlled-access (Type I) 2022/12/27
JGAS000719 NGS(Exome, RNA-seq, scRNA-seq, ATAC-seq, ChIP-seq Controlled-access (Type I) 2024/08/28
JGAS000881 NGS(Exome, RNA-seq Controlled-access (Type I) 2026/04/21

*Release Note

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

 

MOLECULAR DATA

Exome (JGAS000199/JGAS000550/JGAS000719)

Participants/Materials

gastrointestinal inflammatory disease (ICD10: K51): 29 cases

gastrointestinal inflammatory disease with neoplastic disease (ICD10: K51, C18, C19, C20): 26 cases

organoids derived from healthy normal colonic tissues with neoplastic disease (ICD10: C18): 2 cases

controls who underwent colonoscopy: 16 individuals

pancreatic cancer (ICD10: C25): 50 cases

 (organoids derived from tumor tissues)

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500/4000, NovaSeq6000]
Library Source DNAs extracted from peripheral blood cells and organoids established from normal or inflammatory/tumor tissues of the patients or controls
Cell Lines -
Library Construction (kit name) SureSelect Human All Exon kit
Fragmentation Methods Ultrasonic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 200 bp
Japanese Genotype-phenotype Archive Dataset ID

JGAD000284

JGAD000669

JGAD000852

Total Data Volume

JGAD000284: 488 GB (fastq)

JGAD000669: 59.5 GB (fastq)

JGAD000852:846.3 GB(fastq)

Comments (Policies) NBDC policy

 

WGS (JGAS000237)

Participants/Materials

Neoplastic disease: 23 cases (55 samples)

    Small cell lung cancer (ICD10: C34)

    Biliary tract cancer (ICD10: C23, C24, C78)

    Colon cancer (ICD10: C18-20)

    Duodenal cancer (ICD10: C17)

    Esophageal cancer (ICD10: C15)

    Stomach cancer (ICD10: C16, C78)

    Liver cancer (ICD10: C22)

    Pancreatic cancer (ICD10: C25)

Targets WGS
Target Loci for Capture Methods -
Platform Illumina [HiSeq X Ten]
Library Source DNAs extracted from peripheral blood cells and organoids established from normal and cancer tissues of the patients
Cell Lines -
Library Construction (kit name) Library was constructed by BGI
Fragmentation Methods Ultrasonic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 300 bp
Japanese Genotype-phenotype Archive Dataset ID

JGAD000335

Dataset ID of the Processed data by JGA

JGAD000687

The way to Process

Total Data Volume 2.752 TB (fastq)
Comments (Policies) NBDC policy

 

RNA-seq (JGAS000237, JGAS000378)

Participants/Materials

Neoplastic disease: 23 + 4 cases (35+ 5 samples)

    Small cell lung cancer (ICD10: C34)

    Biliary tract cancer (ICD10: C23, C24, C78)

    Colon cancer (ICD10: C18-20)

    Duodenal cancer (ICD10: C17)

    Esophageal cancer (ICD10: C15)

    Stomach cancer (ICD10: C16, C78)

    Liver cancer (ICD10: C22)

    Pancreatic cancer (ICD10: C25)

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500/X Ten, NovaSeq 6000]
Library Source

RNAs extracted from organoids established from tumor tissues and a normal epithelial tissue of the patients

RNAs extracted from organoids with BET bromodomain inhibitor established from tumor tissues and a normal epithelial tissue of colon cancer patients

Cell Lines -
Library Construction (kit name)

TruSeq RNA Library Prep Kit v2

TruSeq Stranded mRNA Library Prep Kit

Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 250 bp/150 bp
Japanese Genotype-phenotype Archive Dataset ID

JGAD000336

JGAD000492

Total Data Volume

JGAD000336: 2.752 TB (fastq)

JGAD000492: 190.5 GB (fastq)

Comments (Policies) NBDC policy

 

RNA-seq (JGAS000256)

Participants/Materials Neoplastic disease (ICD10: C16): 1 case (1 sample)
Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq X Ten]
Library Source Total RNA extracted from normal duodenum organoids with or without a four-day medium rotation, and after 0, 1, 2 or 4 days of medium rotation
Cell Lines -
Library Construction (kit name)

TruSeq RNA Library Prep Kit v2

TruSeq Stranded mRNA Library Prep Kit

Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 250 bp/150 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000359
Total Data Volume 37 GB (fastq)
Comments (Policies) NBDC policy

 

RNA-seq (JGAS000350)

Participants/Materials Neoplastic disease (ICD10: C16): 2 cases (11 samples)
Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 4000]
Library Source RNAs extracted from organoids derived from colon cancer tissues
Cell Lines -
Library Construction (kit name)

TruSeq RNA Library Prep Kit v2

TruSeq Stranded mRNA Library Prep Kit

Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 250 bp/150 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000464
Total Data Volume 108.9 GB (fastq)
Comments (Policies) NBDC policy

 

RNA-seq (JGAS000550)

Participants/Materials Neoplastic disease (ICD10: C18): 2 cases (8 samples)
Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source Total RNA extracted from normal duodenum organoids with or without a four-day medium rotation, and after 0, 1, 2 or 4 days of medium rotation
Cell Lines -
Library Construction (kit name)

TruSeq RNA Library Prep Kit v2

TruSeq Stranded mRNA Library Prep Kit

Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 x 2 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000669
Total Data Volume 46.6 GB (fastq)
Comments (Policies) NBDC policy

 

RNA-seq (JGAS000719)

Participants/Materials

Pancreatic cancer (ICD10: C25): 40 cases (50 samples)

        organoids derived from tumor tissues: 38 cases (38 samples)

        genetically engineered pancreatic duct organoids: 2 cases (12 samples)

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 4000, NovaSeq 6000]
Library Source RNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids
Cell Lines -
Library Construction (kit name)

TruSeq RNA Library Prep Kit v2

TruSeq Stranded mRNA Library Prep Kit

Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 x 2 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000852
Total Data Volume 846.3 GB (fastq)
Comments (Policies) NBDC policy

 

scRNA-seq (JGAS000550)

Participants/Materials Neoplastic disease (ICD10: C16): 1 case (1 sample)
Targets scRNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 4000]
Library Source RNAs extracted from organoids from normal colonic tissue
Cell Lines -
Library Construction (kit name) Single Cell 3′ Library & Gel Bead Kit v2 and the A Chip Kit (10X Genomics)
Fragmentation Methods Enzymatic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 28+91 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000669
Total Data Volume 66.0 GB (fastq)
Comments (Policies) NBDC policy

 

scRNA-seq (JGAS000719)

Participants/Materials

Pancreatic cancer (ICD10: C25): 1 case (6 samples)

 (genetically engineered pancreatic duct organoids)

Targets scRNA-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq 4000]
Library Source RNAs extracted from genetically engineered pancreatic duct organoids
Cell Lines -
Library Construction (kit name) Chromium Next GEM Single Cell 3’ Reagent Kits v3.1
Fragmentation Methods Enzymatic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 28+91 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000852
Total Data Volume 846.3 GB (fastq)
Comments (Policies) NBDC policy

 

ChIP-seq (JGAS000378)

Participants/Materials

Neoplastic disease: 4 cases (5 samples)

    Colon cancer (ICD10: C18)

Targets ChIP-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq X Ten]
Library Source DNAs extracted from organoids derived from colon cancer tissues and a normal epithelial tissue of the patients, and immunoprecipitated with an anti-histone antibody (H3K27Ac)
Cell Lines -
Library Construction (kit name) Illumina Tagment DNA TDE1 Enzyme and Buffer Kits
Fragmentation Methods Ultrasonic fragmentation (Bioruptor Ⅱ)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000492
Total Data Volume 190.5 GB (fastq)
Comments (Policies) NBDC policy

 

 

ChIP-seq (JGAS000719)

Participants/Materials

Pancreatic cancer (ICD10: C25): 5 cases (13 samples)

        organoids derived from tumor tissues: 3 cases (3 samples)

        genetically engineered pancreatic duct organoids: 2 cases (10 samples)

Targets ChIP-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq X Ten]
Library Source DNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids, and immunoprecipitated with an anti-histone antibody (H3K27me3)
Cell Lines -
Library Construction (kit name) Illumina Tagment DNA TDE1 Enzyme and Buffer Kits
Fragmentation Methods Ultrasonic fragmentation (Bioruptor Ⅱ)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
QC FRiP score
Mapping Methods Bowtie2
Reference Genome Sequence hg38
Peak Calling Methods (software) MACS2
Japanese Genotype-phenotype Archive Dataset ID JGAD000852
Total Data Volume 882.8 GB (fastq, bed)
Comments (Policies) NBDC policy

 

ATAC-seq

Participants/Materials

Pancreatic cancer (ICD10: C25): 12 cases (16 samples)

        organoids derived from tumor tissues: 10 cases (12 samples)

        genetically engineered pancreatic duct organoids: 2 cases (4 samples)

Targets ATAC-seq
Target Loci for Capture Methods -
Platform Illumina [HiSeq X Ten]
Library Source DNAs extracted from pancreatic cancer organoids or genetically engineered pancreatic duct organoids
Cell Lines -
Library Construction (kit name) Omni-ATAC protocol
Fragmentation Methods Tn5 transposase
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 x 2 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000852
Total Data Volume 846.3 GB (fastq)
Comments (Policies) NBDC policy

 

Exome (JGAS000881)

Participants/Materials

Duodenal adenoma (ICD10: D13.2): 3 cases (6 samples)

        organoids derived from duodenal tumor tissues: 3 cases (3 samples)

        organoids derived from normal duodenal tissues: 3 cases (3 samples)

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source DNAs extracted from organoids established from tumor and normal tissues
Cell Lines -
Library Construction (kit name) SureSelect Human All Exon V6
Fragmentation Methods Ultrasonic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD001024
Total Data Volume 186.3 GB (fastq)
Comments (Policies) NBDC policy

 

RNA-seq (JGAS000881)

Participants/Materials

Colon cancer (ICD10: C18): 3 cases (22 samples)

        organoids derived from normal ileum tissues: 2 cases (6 samples)

        genetically engineered normal ileum organoids: 2 cases (12 samples)

        organoids derived from normal colon tissues: 1 case (2 samples)

        genetically engineered normal colon organoids: 1 case (2 samples)

Duodenal adenoma (ICD10: D13.2): 3 cases (12 samples)

        organoids derived from duodenal tumor tissues: 3 cases (6 samples)

        organoids derived from normal duodenal tissues: 3 cases (6 samples)

Stomach cancer (ICD10: C16): 1 case (4 samples)

        organoids derived from normal duodenal tissues: 1 case (2 samples)

        genetically engineered normal duodenal organoids: 1 case (2 samples)

1 healthy individual

        organoids derived from normal duodenal tissues: 1 case (2 samples)

        genetically engineered normal duodenal organoids: 1 case (2 samples)

Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source RNAs extracted from organoids established from tumor and normal tissues or genetically engineered organoids
Cell Lines -
Library Construction (kit name) TruSeq RNA Library Prep Kit v2
Fragmentation Methods Heat treatment
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD001024
Total Data Volume 186.3 GB (fastq)
Comments (Policies) NBDC policy

 

 

DATA PROVIDER

Principal Investigator: Toshiro Sato

Affiliation: Department of Organoid Medicine, Keio University School of Medicine

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
Project for Elucidating and Controlling Mechanisms of Aging and Longevity, Japan Agency for Medical Research and Development (AMED) Understanding changes in aging traits aimed at controlling the onset of gastrointestinal diseases JP19gm5010002
Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED) Development of advanced drug discovery system based on understanding of cancer multi-level phenotype JP19cm0106206
Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST) Dissecting intestinal fibrogenic diseases by a newly developed 4D disease model system JP19gm1210001
KAKENHI Grant-in-Aid for Scientific Research (S) Gaining Integrative Understanding of Gastrointestinal Disease Phenotypes through Establishment of an Organoid Library 17H06176
KAKENHI Grant-in-Aid for Scientific Research (B) Functional analysis of small intestinal epithelial organoid-based transplant graft 20H03746
KAKENHI Grant-in-Aid for Scientific Research (S) Elucidating a role of niche construction in pathophysiological mechanism of human digestive diseases 22H04995

 

PUBLICATIONS

TitleDOIDataset ID
1 Somatic inflammatory gene mutations in human ulcerative colitis epithelium doi: 10.1038/s41586-019-1844-5 JGAD000284
2 An Organoid Biobank of Neuroendocrine Neoplasms Enables Genotype-Phenotype Mapping doi: 10.1016/j.cell.2020.10.023

JGAD000335

JGAD000336

3 An organoid-based organ repurposing approach to treat short bowel syndrome doi: 10.1038/s41586-021-03247-2 JGAD000359
4 Organoid screening reveals epigenetic vulnerabilities in human colorectal cancer doi: 10.1038/s41589-022-00984-x JGAD000492
5

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
Klaus H. Kaestner Institue for Diabetes, Obesity & Metabolism at Unversity of Pennsylvania Somatic mutation analysis of the pancreas in type 1 diabetes JGAD000284 2020/04/13-2021/03/03
Ulf Leser Department of Mathematics and Computer Science, Humboldt-Universitaet zu Berlin MAPTor-NET: MAPK-mTOR network model driven individualized therapies of pancreatic neuro-endocrine tumors (pNETs) JGAD000335, JGAD000336 2021/06/03-2023/04/01
Nobuhiro Tanuma Miyagi Cancer Center Research Institute Japan Study on biological characters of pancreatic and gastrointestinal neuroendocrine tumors using patient-derived organoids. JGAD000336 2022/09/19-2023/07/31
Michiaki Hamada Faculty of Science and Engineering, Waseda University Japan Construction of RNA-targeted Drug Discovery Database JGAD000336, JGAD000359, JGAD000492 2022/12/26-2025/03/31
Takuya Yamamoto Laboratory of Precision Immunology, National Institutes of Biomedical Innovation, Health and Nutrition Japan Basic research for vaccine development against gastrointestinal cancer and malignant melanoma based on the identification of novel cancer antigens JGAD000852 2024/11/12-2026/03/31
Kenichi Yoshida Division of Cancer Evolution, National Cancer Center Research Institute Japan A multicenter study on genomic analysis of solid tumors JGAD000852 2025/09/19-2028/03/31

NBDC Research ID: hum0536.v1

 

SUMMARY

Aims: Malignant pleural mesothelioma is an aggressive pleural tumor with poor prognosis. Understanding the molecular mechanisms underlying its development and progression is essential for improving diagnosis and treatment. This study aims to identify clinically relevant molecular pathways through genomic and transcriptome analyses of tumor and non-tumor pleural tissues. Candidate genes associated with tumor initiation and progression will be analyzed in terms of gene expression, localization, dynamics, and cell-to-cell interactions. Their correlation with clinicopathological parameters will also be investigated. Tumor tissues will be preserved by cryopreservation or transplantation into immunodeficient mice to enable further studies using in vivo models or in vitro cell culture systems.

Methods: WGS, single-cell RNA-seq, ATAC-seq

Participants/Materials: One pleural mesothelioma patient

Dataset IDType of DataCriteriaRelease Date
JGAS000859 NGS (WGS, scRNA-seq, ATAC-seq) Controlled-access (Type I) 2026/04/08

*Release Note

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

 

MOLECULAR DATA

WGS

Participants/Materials:

Pleural mesothelioma (ICD10: C45.0): 1 case

      tumor tissues: 2 samples

Targets WGS
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source DNAs extracted from tumor tissues
Cell Lines -
Library Construction (kit name) Illumina DNA PCR-Free Prep Kit
Fragmentation Methods Transposome-mediated on-bead tagmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp x 2
Japanese Genotype-phenotype Archive Dataset ID JGAD001002
Total Data Volume 680.3 GB (fastq)
Comments (Policies) NBDC policy

 

single-nucleus RNA-seq

Participants/Materials:

Pleural mesothelioma (ICD10: C45.0): 1 case

      tumor tissue: 1 sample

      Patient-derived xenograft (PDX) tumor model specimen: 2 samples

Targets scRNA-seq
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source RNAs extracted from enzymatically dissociated tumor samples
Cell Lines -
Library Construction (kit name) Chromium Single Cell 5' Reagent Kits v2 Dual Index, Library Construction Kit
Fragmentation Methods Enzymatic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) Read1: 26 bp, Read2: 90bp
Japanese Genotype-phenotype Archive Dataset ID JGAD001002
Total Data Volume 680.3 GB (fastq)
Comments (Policies) NBDC policy

 

ATAC-seq

Participants/Materials:

Pleural mesothelioma (ICD10: C45.0): 1 case

      Patient-derived cell line: 2 samples

Targets ATAC-seq
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source DNAs extracted from cell line
Cell Lines -
Library Construction (kit name) ATAC-Seq Kit(Active Motif)
Fragmentation Methods included in the above library construction kit
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp x 2
Japanese Genotype-phenotype Archive Dataset ID JGAD001002
Total Data Volume 680.3 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Shumpei Ishikawa

Affiliation: Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo

Project / Group Name: -

Funds / Grants (Research Project Number):

Name Title Project Number
KAKENHI Grant-in-Aid for Scientific Research (S) A New Definition of Heterogeneity in Gastric Cancer through Quantitative Integration of Spatial Tissue and Genomic Information 22H04990
Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED) Trajectory Analysis of Genomic and Pathological Information during the Treatment Course of Refractory Cancers JP24ck0106904
KAKENHI Grant-in-Aid for Scientific Research (B) Elucidation of a Novel Neutrophil–Tumor Interaction in Diffuse-Type Gastric Cancer 23K27436
KAKENHI Grant-in-Aid for JSPS Fellows Mechanistic Dissection of Tumor–Stromal Interactions and Identification of Therapeutic Targets in Malignant Pleural Mesothelioma 23KJ0836

 

PUBLICATIONS

Title DOIDataset ID
1 Cooperative Response Loops Enhanced by Histamine Signaling during Tumor-Neutrophil Crosstalk in Pleural Mesothelioma JGAD001002

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
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