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/

 

Data Set IDType of DataCriteriaRelease Date
JGAS00000000098 NGS (Target Capture) Controlled Access (Type I) 2018/05/11

*Release Note 

* Data users need to apply the Form 2 (Application Form for Using NBDC Human Data) to reach the Controlled Access Data. Learn more

 

MOLECULAR DATA

JGAS00000000098

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 Data set ID JGAD00000000098
Total Data Volume 3 GB (fastq)
Comments (Policies) NBDC policy & hum0101 policy

 

DATA PROVIDER

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
-

 

PUBLICATIONS

TitleDOIData Set ID
1 Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia doi: 10.1038/s41598-018-25260-8 JGAD00000000098
2

 

USERS (Controlled-Access Data)

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