NBDC Research ID: hum0097.v1



Aims: To elucidate the pathogenicity of aplastic anemia with uniparental disomy in 6p

Methods: Exome sequence analysis

Participants/Materials: Patients with aplastic anemia with uniparental disomy in 6p


Data Set IDType of DataCriteriaRelease Date
JGAS00000000097 NGS (Exome) Controlled Access (Type I) 2018/05/25

*Release Note

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Aplastic anemia with uniparental disomy in 6p

(ICD10:D61.9): 5 cases

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500]
Library Source

DNAs extracted from oral swab and peripheral blood cells

   - Loss of heterozygosity (LOH) fraction

   - Wild type (WT) fraction

Cell Lines -
Library Construction (kit name) SureSelect Human All Exon V5+UTRs Kit (Agilent)
Fragmentation Methods Ultrasonic fragmentation (Covaris E220)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 101 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000094
Total Data Volume 1 TB (fastq [30 files])
Comments (Policies) NBDC policy

This study was supported by “Genome Science”. “Genome Science” is a part of the “Support Programs for Three Fields in Life Sciences (cancer, genome and brain sciences)” established by the Ministry of Education, Culture, Sports, Science and Technology (MEXT) under the Grant-in-Aid for Scientific Research on Innovative Areas.



Principal Investigator: Shinji Nakao

Affiliation: Cellular Transplantation Biology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University. Graduate School of Medical Sciences

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research (B) Analysis of clonal hematopoiesis in patients with aplastic anemia 16H05335
KAKENHI Grant-in-Aid for Scientific Research (B) Identification of hematopoiesis regulator with genomic abnormality in patients with aplastic anemia 24390243



TitleDOIData Set ID
1 Identification of an HLA class I allele closely involved in the autoantigen presentation in acquired aplastic anemia. doi: 10.1182/blood-2016-11-752378 -
2 Clinical significance and origin of leukocytes that lack HLA-A allele expression in patients with acquired aplastic anemia. doi: 10.1016/j.exphem.2016.05.013 -
3 Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. doi: 10.1056/NEJMoa1414799 -
4 Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia. doi: 10.1182/blood-2011-07-365189 -
5 Sustained clonal hematopoiesis by HLA-lacking hematopoietic stem cells without driver mutations in aplastic anemia.. doi: 10.1182/bloodadvances.2017013953 JGAD00000000094


USRES (Controlled-Access Data)

Principal Investigator: Affiliation: Data in Use (Data Set ID)Period of Data Use