Description:
ARGININOSUCCINIC ACIDURIA
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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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Family Member
|
1
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Relation to Proband
|
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 |
8 |
| |
| argininosuccinate lyase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.3.2.1 |
| |
| Remarks |
Argininosuccinase deficiency; similarly affected brother |
| Cathelineau L, Dinh DP, Briand P, Kamoun P, Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Hum Genet57:282-4 1981 |
| PubMed ID: 7250970 |
| |
| Shih, Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria. Biochem Genet3:81 (1969):282-4 1969 |
| PubMed ID: 7250970 |
| |
| Moser HW, Efron ML, Brown H, Diamond R, Neumann CG, Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. Am J Med42:9-26 1967 |
| PubMed ID: 6016480 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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