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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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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| PDL at Freeze |
5.21 |
| Passage Frozen |
12 |
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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; LDL receptor activity < 1% of value obtained with normal cells |
| Hogenboom S, Tuyp JJ, Espeel M, Koster J, Wanders RJ, Waterham HR, Mevalonate kinase is a cytosolic enzyme in humans Journal of cell science117:631-9 2004 |
| PubMed ID: 14730012 |
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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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| Hunter JJ, Parslow TG, A peptide sequence from Bax that converts Bcl-2 into an activator of apoptosis. J Biol Chem271:8521-4 1996 |
| PubMed ID: 8621473 |
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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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| Shireman RB, Wei CI, Uptake of 2,3,7,8-tetrachlorodibenzo-p-dioxin from plasma lipoproteins by cultured human fibroblasts. Chem Biol Interact58:1-12 1986 |
| PubMed ID: 3708718 |
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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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| Coetzee GA, van der Westhuyzen DR, Berger GM, Henderson HE, Gevers W, Low density lipoprotein metabolism in cultured fibroblasts from a new group of patients presenting clinically with homozygous familial hypercholesterolemia. Arteriosclerosis2:303-11 1982 |
| PubMed ID: 6287984 |
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| Fung CH, Khachadurian AK, Suppression of synthesis and esterification of cholesterol and stimulation of low density lipoprotein receptor activity by polyoxyethylated cholesterol in cultured human fibroblasts. J Biol Chem255:676-80 1980 |
| PubMed ID: 7356845 |
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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 |
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| Fung CH, Wang CH, Khachadurian AK, Suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and of incorporation of acetate into cholesterol in homozygous hypercholesterolemic fibroblasts by ferritin-low density lipoprotein conjugates. Biochim Biophys Acta528:445-55 1978 |
| PubMed ID: 205253 |
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| Fung CH, Khachadurian AK, Wang CH, Durr IF, Regulation of lipid synthesis by low density lipoproteins in cultured skin fibroblasts in homozygous familial hypercholesterolemia. Biochim Biophys Acta487:445-57 1977 |
| PubMed ID: 195625 |
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| Khachadurian AK, Uthman SM, Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab15:132-40 1973 |
| PubMed ID: 4351242 |
| Passage Frozen |
12 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
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