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 |
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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 |
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 |
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- |
PUBLICATIONS
Title | DOI | Dataset ID | |
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1 | Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia | doi: 10.1038/s41598-018-25260-8 | JGAD000098 |
2 |
USERS (Controlled-access Data)
Principal Investigator: | Affiliation: | Data in Use (Dataset ID) | Period of Data Use |
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