NA00488
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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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 |
| 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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| 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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| 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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| 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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| 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 |
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