Description:
LIPASE DEFICIENCY, COMBINED
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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 |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
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IRISH
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|
Family Member
|
1
|
|
Relation to Proband
|
proband
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|
Confirmation
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Clinical summary/Case history
|
|
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 |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Increased LDL & IDL; skin xanthomata; coronary heart disease & diabetes mellitus; 3 affected generations in pedigree; see GM06945A Lymphoblast |
| Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G, Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis45:161-79 1982 |
| PubMed ID: 6961921 |
| Passage Frozen |
3 |
| 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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