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 |
| Class |
Disorders of Amino Acid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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| PDL at Freeze |
5.56 |
| Passage Frozen |
8 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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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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| MUTATION VERIFICATION |
The gene mutation data was derived by SSCP and DNA sequencing |
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| Gene |
OTC |
| Chromosomal Location |
Xp21.1 |
| Allelic Variant 1 |
D175V; OTC DEFICIENCY |
| Identified Mutation |
ASP175VAL |
| Remarks |
Liver biopsy fibroblast culture; episodes of confusion, disorientation, and altered environmental contact due to intermittent hyperammonemia (ammonia 263); elevated levels of transaminases (SGPT 110, SGOT 83); slight prolongation of her prothrombin time and partial thromboplastin time; subject is heterozygous for a GAT to GTT point mutation in exon 5 of the OTC gene resulting in a substitution of valine for aspartic acid at codon 175 [Asp175Val (D175V)]; the subject also has two polymorphisms: K46R in exon 2 and Q270R in exon 8 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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