NBDC Research ID: hum0116.v1

 

SUMMARY

Aims: Identification of somatic mutations associated with acute myeloid leukemia (AML) pathogenesis.

Methods: Target Capture sequencing (Acute Myeloid Leukemia Cancer Panel and 41 genes)

Participants/Materials: Leukemia stem cells from AML patients or humanized mice with leukemia derived from immune deficiency mice which were infused with human leukemia stem cells

URL: http://www.riken.jp/en/research/labs/ims/hum_dis_model/

 

Dataset IDType of DataCriteriaRelease Date
JGAS000122

NGS (Target Capture): AML cancer panel

NGS (Target Capture): 41 genes

Controlled-access (Type I) 2020/11/20

*Release Note

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

 

MOLECULAR DATA

Target Capture: AML cancer panel

Participants/Materials

AML (ICD10: C920): 19 cases

    Leukemia stem cell: 33 samples, Pre-leukemia stem cell: 2 samples, T-cell: 6 samples, B-cell: 2 samples (total 43 samples)

     37 human leukemia stem cell samples from 37 humanized mice with leukemia derived from immune deficiency mice which were infused with human leukemia stem cell from 12 patients with AML

Targets Target Capture
Target Loci for Capture Methods xGen® Acute Myeloid Leukemia Cancer Panel
Platform Illumina [HiSeq 1500]
Library Source

DNAs extracted from leukemia stem cells, pre-leukemia stem cells, T-cell and B-cells

DNAs extracted from leukemia stem cells from humanized mice with leukemia derived from immune deficiency mice which were infused with human leukemia stem cells

Cell Lines -
Library Construction (kit name)

KAPA Hyper Prep kit

xGen@ Acute Myeloid Leukemia Cancer Panel

Fragmentation Methods -
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 50 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000133
Total Data Volume 423 GB (fastq)
Comments (Policies) NBDC policy

 

Target Capture: 41 genes

Participants/Materials

AML (ICD10: C920): 106 cases

    1) peripheral blood: 45 samples

    2) bone marrow aspirate: 19 samples

    3) human leukemia cells from spleen of humanized mice with leukemia derived from immune deficiency mice which were infused with peripheral blood, bone marrow aspirate or samples from patients with AML: 6 samples

    4) human leukemia cells from bone marrow aspirate of humanized mice with leukemia derived from immune deficiency mice which were infused with peripheral blood, bone marrow aspirate or samples from patients with AML: 36 samples

Targets Target Capture
Target Loci for Capture Methods Coding region of 41 genes (NRAS, KRAS, FLT3, TP53, NPM1, KIT, IDH1, IDH2, SF3B1, U2AF1, TET2, DNMT3A, ASXL1, ASXL2, BCOR, RUNX1, KMT2A(MLL), WT1(WT-1), GATA2, STAG2, RAD21, SMC1A, SMC3, MPL, NF1, PTPN11, CSF3R, CBL, CEBPA, SRSF2, DHX15, ZRSR2, EZH2, SETBP1, KDM6A, ETV6, CUX1, PHF6, MGA, ZBTB7A, PPM1D)
Platform Illumina [HiSeq 2500]
Library Source

DNAs extracted from peripheral blood and bone marrow aspirate

DNAs extracted from human leukemia cells from spleen and bone marrow aspirate of humanized mice with leukemia derived from immune deficiency mice which were infused with peripheral blood, bone marrow aspirate or samples from patients with AML

Cell Lines -
Library Construction (kit name) multiplex PCR + 2nd PCR
Fragmentation Methods -
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 151 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000355
Total Data Volume 23 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Fumihiko Ishikawa

Affiliation: Laboratory for Human Disease Models, Riken Center for Integrative Medical Sciences

Project / Group Name: Target AML project

Funds / Grants (Research Project Number):

NameTitleProject Number

 

PUBLICATIONS

TitleDOIDataset ID
1 Overcoming mutational complexity in acute myeloid leukemia by inhibition of critical pathways doi: 10.1126/scitranslmed.aao1214 JGAD000133
2 Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive Acute Myeloid Leukemia doi: 10.1038/s43018-021-00177-w JGAD000355

 

USRES (Controlled-access Data)

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