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 |
| 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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Not Hispanic/Latino
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
| |
| 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; sensory impairment; mother of an affected child (GM23388); donor subject is heterozygous for a C>T transition at nucleotide 829 in exon 8 of the OTC gene (829C>T) resulting in the substitution of tryptophan for arginine at codon 277 [Arg277Trp (R277W)] |
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