NBDC Research ID: hum0101.v1

SUMMARY

Aims: Identification of gene mutations in the patients with primary immunodeficiency characterized by EBV-associated B-cell lymphoma

Methods: targeted exome sequencing

Participants/Materials: two patients with primary immunodeficiency (PID) characterized by EBV-associated B-cell lymphoma and their parents

URL: https://crc.nnh.go.jp/en/

Dataset ID	Type of Data	Criteria	Release Date
JGAS000098	NGS (Target Capture)	Controlled-access (Type I)	2018/05/11

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MOLECULAR DATA


Participants/Materials	2 patients with primary immunodeficiency (PID) characterized by EBV-associated B-cell lymphoma (ICD10: D849) and their parents (total: 4 samples)
Targets	Target Capture
Target Loci for Capture Methods	exon regions of 2,761 genes (7 Mb)
Platform	Illumina [MiSeq]
Library Source	DNAs extracted from peripheral blood cells
Cell Lines	-
Library Construction (kit name)	Illumina TruSight Exome Kit
Fragmentation Methods
Spot Type	Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers)	75 bp
Japanese Genotype-phenotype Archive Dataset ID	JGAD000098
Total Data Volume	3 GB (fastq)
Comments (Policies)	NBDC policy & hum0101 policy

Principal Investigator: Yasumasa Iwatani

Affiliation: Department of Infectious Diseases and Immunology, Clinical Research Center, National Hospital Organization Nagoya Medical Center

Project / Group Name: -

URL: https://crc.nnh.go.jp/en/departments/infectious_diseases/

Funds / Grants (Research Project Number):

Name	Title	Project Number
-

	Title	DOI	Dataset ID
1	Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia	doi: 10.1038/s41598-018-25260-8	JGAD000098
2

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