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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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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French Canadian
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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 |
8 |
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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 |
Receptor negative; approximately 10 fold increase in HMG CoA reductase in fibroblasts |
| Dobreva I, Waeber G, Mooser V, James RW, Widmann C, LDLs induce fibroblast spreading independently of the LDL receptor via activation of the p38 MAPK pathway. J Lipid Res44(12):2382-90 2003 |
| PubMed ID: 12951358 |
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| Andre P, Komurian-Pradel F, Deforges S, Perret M, Berland JL, Sodoyer M, Pol S, Brechot C, Paranhos-Baccala G, Lotteau V, Characterization of low- and very-low-density hepatitis C virus RNA-containing particles. J Virol76(14):6919-28 2002 |
| PubMed ID: 12072493 |
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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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| Bihain BE, Yen FT, Free fatty acids activate a high-affinity saturable pathway for degradation of
low-density lipoproteins in fibroblasts from a subject homozygous for familial
hypercholesterolemia. Biochemistry31(19):4628-36 1992 |
| PubMed ID: 1581314 |
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| Shireman RB, Muth J, Toth JP, [14C]acetate incorporation by cultured normal, familial hypercholesterolemia and Down's syndrome fibroblasts. Biochim Biophys Acta958:352-60 1988 |
| PubMed ID: 2963664 |
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| Kling D, Becker MM, Kruth HS, Gamble W, 2,4,5,2',4',5'-Hexachlorobiphenyl-lipoprotein (LDL, HDL, VLDL) interaction and induced lipidosis in cultured skin fibroblasts. Environ Res34:87-102 1984 |
| PubMed ID: 6327254 |
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| Beranek SR, Becker MM, Kling D, Gamble W, Phospholipid and glyceride biosynthesis in 2,4,5,2',4',5'- hexachlorobiphenyl-treated human skin fibroblasts. Environ Res34:103-9 1984 |
| PubMed ID: 6426945 |
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| Maziere JC, Maziere C, Mora L, Polonovski J, Impairment of exogenous sphingomyelin degradation in cultured fibroblasts from familial hypercholesterolemia. FEBS Lett173:159-63 1984 |
| PubMed ID: 6745424 |
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| Floren CH, Albers JJ, Kudchodkar BJ, Bierman EL, Receptor-dependent uptake of human chylomicron remnants by cultured skin fibroblasts. J Biol Chem256:425-33 1981 |
| PubMed ID: 6256352 |
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| Kruth HS, Vaughan M, Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy. J Lipid Res21:123-30 1980 |
| PubMed ID: 6986448 |
| Passage Frozen |
8 |
| Split Ratio |
1:4 |
| 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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