Description:
LACTIC ACIDOSIS, CONGENITAL INFANTILE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17382 [LACTIC ACIDOSIS, CONGENITAL INFANTILE] |
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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 |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Egyptian; parents are first cousins; EEG abnormalities; seizure activity; expired at age 1 month of respiratory failure; high lactate/pyruvate ratio; fibroblasts show decreased ability to oxidize pyruvate & abnormal NAD to NADH ratio |
| Robinson BH, Taylor J, Francois B, Beaudet AL, Peterson DF, Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH. Eur J Pediatr140:98-101 1983 |
| PubMed ID: 6884392 |
| Passage Frozen |
11 |
| 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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