Description:
APOLIPOPROTEIN C-II 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 Lipid 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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|
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 |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Hypertriglyceridemia; chylomicronemia; pancreatitis; diabetes mellitus; parents are second cousins; positive family history for Apo C-II deficiency |
| Breckenridge WC, Little JA, Steiner G, Chow A, Poapst M, Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med298:1265-73 1978 |
| PubMed ID: 565877 |
| |
| Cox DW, Breckenridge WC, Little JA, Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. N Engl J Med299:1421-4 1978 |
| PubMed ID: 213719 |
| Passage Frozen |
4 |
| Split Ratio |
1:2 |
| 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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