NA02000
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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 |
6 |
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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; same patient as GM01116; LDL receptor activity < 1% of value obtained with normal cells |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
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| Villard EF, Thedrez A, Blankenstein J, Croyal M, Tran TT, Poirier B, Le Bail JC, Illiano S, Nobécourt E, Krempf M, Blom DJ, Marais AD, Janiak P, Muslin AJ, Guillot E, Lambert G, PCSK9 Modulates the Secretion But Not the Cellular Uptake of Lipoprotein(a) Ex Vivo: An Effect Blunted by Alirocumab JACC Basic to translational science1:419-427 2018 |
| PubMed ID: 29308438 |
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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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| Galeano NF, Al-Haideri M, Keyserman F, Rumsey SC, Deckelbaum RJ, Small dense low density lipoprotein has increased affinity for LDL receptor-independent cell surface binding sites: a potential mechanism for increased atherogenicity. J Lipid Res39:1263-73 1998 |
| PubMed ID: 9643358 |
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| Rumsey SC, Galeano NF, Lipschitz B, Deckelbaum RJ, Oleate and other long chain fatty acids stimulate low density lipoprotein receptor activity by enhancing acyl coenzyme A:cholesterol acyltransferase activity and altering intracellular regulatory cholesterol pools in cultured cells. J Biol Chem270:10008-16 1995 |
| PubMed ID: 7730302 |
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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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| Sanan DA, van der Westhuyzen DR, Gevers W, Coetzee GA, Early appearance of dispersed low density lipoprotein receptors on the fibroblast surface during recycling. Eur J Cell Biol48:327-36 1989 |
| PubMed ID: 2744006 |
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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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| Preobrazhensky SN, Tsibulsky VP, Fuki IV, Ivanov VO, Repin VS, Smirnov VN, Enzyme immunoassay of the receptors for modified low density lipoprotein. Anal Biochem154:382-7 1986 |
| PubMed ID: 3524309 |
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| Thellman CA, Shireman RB, In vitro uptake of [3H]alpha-tocopherol from low density lipoprotein by cultured human fibroblasts. J Nutr115:1673-9 1985 |
| PubMed ID: 4067658 |
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| Illingworth DR, Alam NA, Lindsey S, Adrenocortical response to adrenocorticotropin in heterozygous familial hypercholesterolemia. J Clin Endocrinol Metab58:206-11 1984 |
| PubMed ID: 6315760 |
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| Kingsley DM, Krieger M, Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface- receptor activity. Proc Natl Acad Sci U S A81:5454-8 1984 |
| PubMed ID: 6089204 |
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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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| Illingworth DR, Alam NA, Sundberg EE, Hagemenas FC, Layman DL, Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. Proc Natl Acad Sci U S A80:3475-9 1983 |
| PubMed ID: 6304711 |
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| Krieger M, Complementation of mutations in the LDL pathway of receptor-mediated endocytosis by cocultivation of LDL receptor-defective hamster cell mutants. Cell33:413-22 1983 |
| PubMed ID: 6305509 |
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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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| Ostlund RE Jr, Levy RA, Witztum JL, Schonfeld G, Familial hypercholesterolemia. Evidence for a newly recognized mutation determining increased fibroblast receptor affinity but decreased capacity for low density lipoprotein in two siblings. J Clin Invest70:823-31 1982 |
| PubMed ID: 6288770 |
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| Barak LS, Webb WW, Fluorescent low density lipoprotein for observation of dynamics of individual receptor complexes on cultured human fibroblasts. J Cell Biol90:595-604 1981 |
| PubMed ID: 6270157 |
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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 Series, No. 1281980:595-604 1980 |
| PubMed ID: 6270157 |
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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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| Murray GJ, Neville DM Jr, Mannose 6-phosphate receptor-mediated uptake of modified low density lipoprotein results in down regulation of hydroxymethylglutaryl-CoA reductase in normal and familial hypercholesterolemic fibroblasts. J Biol Chem255:11942-8 1980 |
| PubMed ID: 6254987 |
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