Description:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; 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 History
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N
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Relation to Proband
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proband
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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 |
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| Gene |
OTC |
| Chromosomal Location |
Xp21.1 |
| Allelic Variant 1 |
R92X; OTC DEFICIENCY |
| Identified Mutation |
ARG92TER |
| Remarks |
Clinically affected; symptom onset at age 2 years; past hyperammonemic events; pathogenic mutation: C>T transition at nucleotide 274 in exon 3 of the OTC gene (c.274C>T) resulting in a stop codon at Arg92 [Arg92Ter (R92X)]; normal neurological evaluation at 6 years of age; treatments include: citrulline arginine supplement and sodium phenylbutyrate; protein restriction; |
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