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 |
|
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
|
|
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 |
7 |
| |
| 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 |
| 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 |
| Passage Frozen |
7 |
| Split Ratio |
1:5 |
| 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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