NA06902
DNA from Fibroblast
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 |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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| Passage Frozen |
4 |
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| ornithine carbamoyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.1.3.3; 0% activity. |
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| Remarks |
Positive family history for dietary protein intolerance by the mother & neonatal death in the maternal uncle; minimal awareness of surroundings; hypertonic; no detectable liver OTC activity in liver biopsy |
| Lee JS1, Adler L2, Karathia H3, Carmel N2, Rabinovich S2, Auslander N1, Keshet R2, Stettner N4, Silberman A2, Agemy L5, Helbling D6, Eilam R7, Sun Q8, Brandis A9, Malitsky S9, Itkin M9, Weiss H2, Pinto S2, Kalaora S10, Levy R10, Barnea E11, Admon A11, Dimmock D12, Stern-Ginossar N13, Scherz A7, Nagamani SCS14, Unda M15, Wilson DM 3rd16, Elhasid R17, Carracedo A18, Samuels Y10, Hannenhalli S3, Ruppin E19, Erez A20., Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures Cell: 2018 |
| PubMed ID: 30100185 |
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| Michels VV, Potts E, Walser M, Beaudet AL, Ornithine transcarbamylase deficiency: long-term survival. Clin Genet22:211-4 1982 |
| PubMed ID: 7151305 |
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