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 |
| Alternate IDs |
GM17002 [HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880] |
| 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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White
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Ethnicity
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DUTCH
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Remarks |
Homozygous HLA type: A2,Bw38,Dw6,DRw6,& SB2,4; product of consanguineous (first cousin) marriage; line WVD |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
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| Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R,
Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis. Nat Genet22(3):239-47 1999 |
| PubMed ID: 10391210 |
| dbSNP |
dbSNP ID: 10888 |
| 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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