NA23090

NA23090 DNA from LCL

Description:

HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880

Affected:

No Data

Sex:

Male

Age:

29 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
GeT-RM Samples

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

HLA-B*1502/HLA-B*5101; HLA-B*5701 wt/neg.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

HLA-B

Chromosomal Location

6p21.3

Allelic Variant 1

142830.0002; STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO

Identified Mutation

HLA-B*1502

Gene

HLA-B

Chromosomal Location

6p21.3

Allelic Variant 2

;

Identified Mutation

HLA-B*5101

Phenotypic Data

Remarks

HLA-B*1502/HLA-B*5101; HLA-B*5701 wt/neg.

Publications

Cavers A, Kugler MC, Ozguler Y, Al-Obeidi AF, Hatemi G, Ueberheide BM, Ucar D, Manches O, Nowatzky J, Behçet's disease risk-variant HLA-B51/ERAP1-Hap10 alters human CD8 T cell immunity Annals of the rheumatic diseases: 2022

PubMed ID: 35922122

Scott SA, Scott ER, Seki Y, Chen AJ, Wallsten R, Owusu Obeng A, Botton MR, Cody N, Shi H, Zhao G, Brake P, Nicoletti P, Yang Y, Delio M, Shi L, Kornreich R, Schadt EE, Edelmann L, Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection Clinical and translational science14:204-213 2020

PubMed ID: 32931151

Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV, Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD14:204-213 2019

PubMed ID: 31401124

Suzuki O, Dong OM, Howard RM, Wiltshire T, Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing Pharmacogenomics20:1005-1020 2019

PubMed ID: 31559919

Fang H, Xu X, Kaur K, Dedek M, Zhu GD, Riley BJ, Espin FG, Del Tredici AL, Moreno TA, A Screening Test for Frontiers in pharmacology10:149 2018

PubMed ID: 30971914

Swart M, Stansberry WM, Pratt VM, Medeiros EB, Kiel PJ, Shen F, Schneider BP, Skaar TC, Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology The Journal of molecular diagnostics : JMD21:491-502 2018

PubMed ID: 30794985

Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV., Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.18(1):109-23 2016

PubMed ID: 26621101