NBDC Research ID: hum0097.v1

SUMMARY

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 ID	Type of Data	Criteria	Release Date
JGAS000094	NGS (Exome)	Controlled Access (Type I)	2018/05/25

*Release Note

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

MOLECULAR DATA

JGAS000094


Participants/Materials	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	JGAD000094
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.

DATA PROVIDER

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):

Name	Title	Project 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

PUBLICATIONS

	Title	DOI	Data 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	JGAD000094

USRES (Controlled-Access Data)

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