Description:
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
GeT-RM Samples |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Asian
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Ethnicity
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CHINESE
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
HLA-B |
| Chromosomal Location |
6p21.3 |
| Allelic Variant 1 |
142830.0002; STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO |
| Identified Mutation |
HLA-B*1502 |
| Remarks |
HLA-B*1502/HLA-B*1502; HLA-B*5701 wt/neg. |
| Lin G, Zhang K, Li J, A national proficiency scheme for human leucocyte antigen typing by next-generation sequencing Clinica chimica acta; international journal of clinical chemistry533:85-88 2022 |
| PubMed ID: 35738456 |
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| Victoria M. Pratt, Wendy Y. Wang, Erin C. Boone, Ulrich Broeckel, Neal Cody, Lisa Edelmann, Andrea Gaedigk, Ty C. Lynnes, Elizabeth B. Medeiros, Ann M. Moyer, Matthew W. Mitchell, Stuart A. Scott, Petr Starostik, Amy Turner, Lisa V. Kalman, Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project The Journal of Molecular Diagnostics24:1079-1088 2022 |
| PubMed ID: 35931342 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
| Gene Cards |
HLA-A |
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HLA-DPA1 |
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HLA-DRA |
| Gene Ontology |
GO:0005887 integral to plasma membrane |
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GO:0006955 immune response |
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GO:0019883 antigen presentation, endogenous antigen |
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GO:0019884 antigen presentation, exogenous antigen |
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GO:0019885 antigen processing, endogenous antigen via MHC class I |
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GO:0019886 antigen processing, exogenous antigen via MHC class II |
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GO:0030106 MHC class I receptor activity |
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GO:0045012 MHC class II receptor activity |
| NCBI Gene |
Gene ID:3105 |
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Gene ID:3113 |
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Gene ID:3122 |
| NCBI GTR |
142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A |
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142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA |
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142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 |
| OMIM |
142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A |
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142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA |
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142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 |
| Omim Description |
HLA-A HISTOCOMPATIBILITY TYPE |
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MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A |
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HLA-DR HISTOCOMPATIBILITY TYPE; HLA-DRA |
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MAJOR HISTOCOMPATIBILITY COMPLEX II, DR ALPHA; HLA-DRA1 |
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HLA-SB HISTOCOMPATIBILITY TYPE; HLASB; HLADP |
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MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 |
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