Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
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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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Tissue Type
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Skin
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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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 |
16 |
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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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| Remarks |
Clinically affected; very high serum LDL (820 mg/L), triglycerides: 85; normal triglycerides; cutaneous and tendinous xanthomas; corneal arcus; no response to diet and bile chelating resins; fibroblast assays show minimal binding, internalization and degradation and oleate incorporation into cholesterol ester; 120I-LDL binding assay showed this line to have <5% normal activity (LDL receptor negative); Family history: mother’s side of the family reported to be strongly positive for early onset atherosclerosis and hypercholesterolemia; affected mother(GM03065)-serum cholesterol level 870 mg/L, triglycerides: 51, no xanthomas, no clinical evidence of atherosceloris; affected father(GM03064)-serum cholesterol level 299 mg/L, triglycerides: 150, no xanthomas, no clinical evidence of atherosclerosis. |
| Omer L, Hindi L, Militello G, Stivers KB, Tien KC, Boyd NL, Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment Disease models & mechanisms: 2019 |
| PubMed ID: 32005714 |
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| Agnello V, Abel G, Elfahal M, Knight GB, Zhang QX, Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor. Proc Natl Acad Sci U S A96:12766-71 1999 |
| PubMed ID: 10535997 |
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| Chatterjee, Alterations in cell surface glycosphingolipids and their metabolism in familial hypercholesterolemic fibroblasts. (from CELL SURFACE GLYCOLIPIDS, C.C. Sweeley, ed.) ACS Symposium Series16:265 (1980):12766-71 1980 |
| PubMed ID: 10535997 |
| Passage Frozen |
16 |
| 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 |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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