NBDC Research ID: hum0378.v1
SUMMARY
Aims: To investigate the mechanisms of clonal expansion in hemolytic anemia, especially in conditions where cold agglutinin disease (CAD) and paroxysmal nocturnal hemoglobinuria (PNH) clones are detected. Patient samples will be subjected to whole-exome sequencing (WES), RNA-seq, ChIP-seq, and single-cell analyses to detect gene mutations, gene expression, fusion genes, and epigenetics.
Methods: DNAs extracted from buccal mucosa and bone marrow aspirates collected at the time of diagnosis were examined for genetic mutations by WES.
Participants/Materials: 2 CADs
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000583 | NGS (Exome) | Controlled-access (Type I) | 2024/09/09 |
| JGAS000612 | NGS (Exome) | Controlled-access (Type I) | 2024/09/09 |
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MOLECULAR DATA
| Participants/Materials |
[JGAS000583] CAD (ICD10: D59.1): 1 case buccal mucosa: 1 sample BM: 1 sample [JGAS000612] CAD (ICD10: D59.1): 1 case buccal mucosa: 1 sample BM: 2 samples |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [NovaSeq 6000] |
| Library Source | DNAs extracted from buccal mucosa and bone marrow aspirates |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon V6 |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris LE220) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | |
| Total Data Volume |
JGAD000709: 9.7 GB (fastq) JGAD000741: 28.6 GB (fastq) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Daisuke Koyama
Affiliation: Department of hematology, Fukushima Medical University
Project / Group Name: Basic research to elucidate the pathogenesis of hemolytic anemia
URL: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research (C) | Structural basis of intracellular metabolic regulation in leukemia | 22K08514 |
| Takeda Science Foundation | The Discovery of a Novel Mechanism in Leukemic Stem Cell Formation: Metabolic Reprogramming by LSD1 | - |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | A case of cold agglutinin syndrome associated with chronic lymphocytic leukaemia harbouring mutations in CARD11 and KMT2D | doi: 10.1007/s12185-023-03608-9 | JGAD000709 |
| 2 | Lymphoplasmacytic lymphoma presenting cold agglutinin syndrome: Clonal expansion of KMT2D and IGHV4-34 mutations after COVID-19 | doi: 10.1111/bjh.19106 | JGAD000741 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
