Description:
HYPERLIPOPROTEINEMIA, TYPE I
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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 |
2 |
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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 |
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| lipoprotein lipase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.1.34 |
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| Remarks |
Cutaneous xanthomas; hypertriglyceridemia; similarly affected brother; lipoprotein lipase deficiency; no apolipoprotein C-II deficiency; normal cholesterol level; concentration of low & high density lipoproteins is depressed |
| dbSNP |
dbSNP ID: 20992 |
| Gene Ontology |
GO:0004465 lipoprotein lipase activity |
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GO:0005319 lipid transporter activity |
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GO:0005576 extracellular |
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GO:0006631 fatty acid metabolism |
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GO:0008015 circulation |
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GO:0008201 heparin binding |
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GO:0016042 lipid catabolism |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:4023 |
| NCBI GTR |
238600 HYPERLIPOPROTEINEMIA, TYPE I |
| OMIM |
238600 HYPERLIPOPROTEINEMIA, TYPE I |
| Omim Description |
CHYLOMICRONEMIA, FAMILIALLIPOPROTEIN LIPASE, INCLUDED; LPL, INCLUDED |
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HYPERCHYLOMICRONEMIA, FAMILIAL |
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HYPERLIPEMIA, ESSENTIAL FAMILIAL |
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HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE |
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HYPERLIPOPROTEINEMIA, TYPE I |
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HYPERLIPOPROTEINEMIA, TYPE IA |
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LIPASE D DEFICIENCY |
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LIPD DEFICIENCY |
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LIPOPROTEIN LIPASE DEFICIENCY |
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LPL DEFICIENCY |
| Passage Frozen |
2 |
| 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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