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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
|
|
Transformant
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Untransformed
|
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Race
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White
|
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Ethnicity
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LATIN AMERICAN
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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 |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| arginase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.3.1 |
| |
| Remarks |
Mexican-American; RBC Arginase deficiency; see GM02011A Lymphoid |
| Michels VV, Beaudet AL, Arginase deficiency in multiple tissues in argininemia. Clin Genet13:61-7 1978 |
| PubMed ID: 624188 |
| Passage Frozen |
5 |
| 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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