Description:
3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Alternate IDs |
GM17383 [3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY] |
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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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Ethnicity
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EGYPTIAN
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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 |
7 |
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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 |
| |
| Remarks |
Deficient lymphocyte HMG-CoA Lyase activity; encephalopathy, hepatic dysfunction, vomiting, lethargy, seizures, & abnorm urinary organic acids; pos family history; consang parents both have carrier levels of enzyme act in lymphocytes |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| 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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