GM11296
LCL from B-Lymphocyte
Description:
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A
TYROSINASE; TYR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
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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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Race
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White
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Ethnicity
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SCOTTISH/IRISH
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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 positive result with a primer for Yq11, DYS227. |
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| monophenol monooxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.18.1; 0% activity. |
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| Gene |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 1 |
606933.0002; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
PRO81LEU; In 6 of 30 unrelated patients with a tyrosinase-negative (type IA) oculocutaneous albinism, Giebel et al. [J. Med. Genet. 28: 464-467 (1990)] observed a CCT-to-CTT change in codon 81 resulting in a substitution of leucine for proline. |
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| Gene |
TYR |
| Chromosomal Location |
11q14-q21 |
| Allelic Variant 2 |
606933.0025; ALBINISM, OCULOCUTANEOUS, TYPE IA |
| Identified Mutation |
ARG217TRP; Tripathi et al. [Am. J. Med. Genet. 43: 865-871 (1992)] described a C>T substitution in codon 217 resulting in a substitution of trp for arg.
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| Remarks |
Type Ia; absent pigment of skin, hair, & eyes; very low vision; nystagmus; strabismus; no family history of OCA; undetectable tyrosinase activity in scalp hairbulbs; donor subject is a compound heterozygote: one allele has a CCT (Pro)>CTT (Leu) change at codon 81 of the TYR gene [Pro81Leu (P81L)]; the other allele has a CGG (Arg)>TGG (Trp) change at codon 217 [Arg217Trp (R217W)] |
| dbSNP |
dbSNP ID: 11529 |
| Gene Cards |
TYR |
| Gene Ontology |
GO:0004503 monophenol monooxygenase activity |
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GO:0005798 Golgi vesicle |
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GO:0006583 melanin biosynthesis from tyrosine |
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GO:0006726 eye pigment biosynthesis |
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GO:0007601 visual perception |
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GO:0008152 metabolism |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:7299 |
| NCBI GTR |
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
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606933 TYROSINASE; TYR |
| OMIM |
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
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606933 TYROSINASE; TYR |
| Omim Description |
ALBINISM I |
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ALBINISM, OCULOCUTANEOUS, TYPE I |
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ALBINISM, OCULOCUTANEOUS, TYPE IA |
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ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED |
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ALBINISM, YELLOW MUTANT TYPE, INCLUDED |
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OCULOCUTANEOUS ALBINISM, TYPE I; OCA1 |
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OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATNTYROSINASE, INCLUDED; TYR, INCLUDED |
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YELLOW ALBINISM, INCLUDED |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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