GM23637
LCL from B-Lymphocyte
Description:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
ORNITHINE CARBAMOYLTRANSFERASE; OTC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
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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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Not Hispanic/Latino
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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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 |
OTC |
| Chromosomal Location |
Xp21.1 |
| Allelic Variant 1 |
300461.0014; OTC DEFICIENCY |
| Identified Mutation |
ARG277TRP; In 2 unrelated males with mild OTC deficiency, Hata et al. (1991) found a single base substitution (C to T) leading to the substitution of tryptophan for arginine at amino acid position 277. In each family the affected male had an asymptomatic brother hemizygous for the mutation.
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| Remarks |
Asymptomatic; allopurinol challenge: rise in orotic acid to peak 51 mmole/mole creatinine; donor subject has a C>T transition in exon 8 of the OTC gene(CGG> TGG) resulting in the substitution of tryptophan for arginine at codon 277[Arg277Trp,R277W); normal neurological evaluation at age 5; positive family history. |
| Split Ratio |
1:4 |
| 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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