NA00701
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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| 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 |
| Matsuura H, Akahane S, Kaido T, Kamijo T, Sakamoto K, Yamauchi K, Apolipoprotein E isoforms and their Cys-thiol modifications impact LRP1-mediated metabolism of triglyceride-rich lipoproteins FEBS letters: 2023 |
| PubMed ID: 38279679 |
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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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| 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 |
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