GM23090
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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Country of Origin
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USA
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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 |
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| Gene |
HLA-B |
| Chromosomal Location |
6p21.3 |
| Allelic Variant 2 |
; |
| Identified Mutation |
HLA-B*5101 |
| Remarks |
HLA-B*1502/HLA-B*5101; HLA-B*5701 wt/neg. |
| 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 |
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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 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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