NBDC Research ID: hum0318.v1



Aims: Hematopoietic malignancies such as leukemia develop as a result of the accumulation of structural and functional abnormalities in the genome and epigenome in the originating undifferentiated hematopoietic stem and progenitor cells. However, the details of the pathogenesis and the processes leading to the onset of these disorders remain unresolved, and fundamental treatments based on the pathogenic mechanisms have not been established. In this study, we aim to clarify the genomic and epigenomic abnormalities involved in the pathogenesis of hematological diseases using a comprehensive genomic analysis, and to search for key molecules that will lead to accurate diagnosis and drug discovery for hematological diseases based on the mechanisms.

Methods: The patient’s bone marrow (BM) samples were collected at three different time points during the clinical course. NGS was performed using extracted DNA from each BM sample via the TruSight Myeloid Panel on the MiSeq platform (Illumina). Oral epithelial cells were collected from buccal swabs served as a germline control.

Participants/Materials: Bone marrow and oral mucosa samples from one B-cell acute lymphoblastic leukemia (B-ALL) patient


Dataset IDType of DataCriteriaRelease Date
JGAS000487 NGS (Target Capture) Controlled-access (Type I) 2022/03/09

* Release Note  

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




B-ALL (ICD10:C91.0): 1 patient

      bone marrow: 3 samples

      oral mucosa: 1 sample

Targets Target Capture
Target Loci for Capture Methods TruSight Myeloid Sequencing Panel (Gene List)
Platform Illumina [MiSeq]
Library Source DNAs extracted from BM and oral mucosa samples from a B-ALL patient
Cell Lines -
Library Construction (kit name) oligonucleotide-based target capture followed by PCR amplicon sequencing (TruSight ™ Myeloid Sequencing Panel)
Fragmentation Methods -
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 250 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000604
Total Data Volume 5.1GB  (fastq)
Comments (Policies) NBDC policy



Principal Investigator: Arinobu Tojo

Affiliation: Department of Hematology/Oncology, Institute of Medical Science, University of Tokyo

Project / Group Name: -

Funds / Grants (Research Project Number):  

NameTitleProject Number
- - -



TitleDOIDataset ID
1 Repeated Lineage Switches in an Elderly Case of Refractory B-Cell Acute Lymphoblastic Leukemia With MLL Gene Amplification: A Case Report and Literature Review doi: 10.3389/fonc.2022.799982 JGAD000600


USRES (Controlled-Access Data)

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