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 |
| 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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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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| Remarks |
Consanguineous parents (brother/sister mating); cleft palate & renal agenesis; homozygous HLA type: A1, B39,Cw7,DRw6.1; BF type:1-1; GL01 type: 2-2; GC type:2-1; ACP1 type:BB; ADA type:1-1; ADK type:1-1; ESD type:1-1; PGM1 type:1-1; HP type:1-1 |
| Maeda M, Constantoulakis P, Chen CS, Stamatoyannopoulos G, Yoshida A, Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material. Am J Hum Genet51:386-95 1992 |
| PubMed ID: 1353664 |
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| Azen EA, Karn RC, Pauli RM, A human lymphoblastoid cell line from the offspring of a brother-sister mating. Cytogenet Cell Genet38:238-9 1984 |
| PubMed ID: 6593161 |
| dbSNP |
dbSNP ID: 23173 |
| 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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