GM11296
LCL from B-Lymphocyte
Description:
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A
TYROSINASE; TYR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
SCOTTISH/IRISH
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| monophenol monooxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.18.1; 0% activity. |
| |
| 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. |
| |
| 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.
|
| 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)] |
| Gene Cards |
TYR |
| Gene Ontology |
GO:0004503 monophenol monooxygenase activity |
|
GO:0005798 Golgi vesicle |
|
GO:0006583 melanin biosynthesis from tyrosine |
|
GO:0006726 eye pigment biosynthesis |
|
GO:0007601 visual perception |
|
GO:0008152 metabolism |
|
GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:7299 |
| NCBI GTR |
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
|
606933 TYROSINASE; TYR |
| OMIM |
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
|
606933 TYROSINASE; TYR |
| Omim Description |
ALBINISM I |
| |
ALBINISM, OCULOCUTANEOUS, TYPE I |
| |
ALBINISM, OCULOCUTANEOUS, TYPE IA |
| |
ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED |
| |
ALBINISM, YELLOW MUTANT TYPE, INCLUDED |
| |
OCULOCUTANEOUS ALBINISM, TYPE I; OCA1 |
| |
OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATNTYROSINASE, INCLUDED; TYR, INCLUDED |
| |
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 |
- |
|