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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Black/African American
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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 |
7 |
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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 |
| 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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| 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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| Milne R, Theolis R Jr, Maurice R, Pease RJ, Weech PK, Rassart E, Fruchart JC, Scott J, Marcel YL, The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B. J Biol Chem264:19754-60 1989 |
| PubMed ID: 2479639 |
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| Friedman SJ, Bokesch H, Skehan P, The regulation of sterol metabolism by cell interactions. Exp Cell Res172:463-73 1987 |
| PubMed ID: 3653268 |
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| Joe CO, Sylvia VL, Norman JO, Busbee DL, Repair of benzo[a]pyrene-initiated DNA damage in human cells requires activation of DNA polymerase alpha. Mutat Res184:129-37 1987 |
| PubMed ID: 3041206 |
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| Shireman RB, Williams D, Remsen JF, Uptake of [3H]vitamin D3 from low and high density lipoproteins by cultured human fibroblasts. Proc Soc Exp Biol Med181:392-8 1986 |
| PubMed ID: 3003757 |
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| Joe CO, Norman JO, Irvin TR, Busbee DL, DNA polymerase activity in a repair-deficient human cell line. Biochem Biophys Res Commun128:754-9 1985 |
| PubMed ID: 3994723 |
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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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| Shireman RB, Coffey MT, Relationships between composition and cellular uptake of lipoproteins from normal and hyperlipemic swine. J Nutr114:2373-82 1984 |
| PubMed ID: 6502280 |
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| Shireman RB, Mace L, Davidson S, Effects of dichloroacetate and glyoxylate on low density lipoprotein uptake and on growth of cultured fibroblasts. Proc Soc Exp Biol Med175:420-3 1984 |
| PubMed ID: 6324220 |
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| Slotte JP, Ekman S, Bjorkerud S, Uptake and esterification of exogenous cholesterol by low-density- lipoprotein-receptor-negative human fibroblasts in culture. Biochem J222:821-4 1984 |
| PubMed ID: 6487273 |
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| Rudling MJ, Collins VP, Peterson CO, Delivery of aclacinomycin A to human glioma cells in vitro by the low- density lipoprotein pathway. Cancer Res43:4600-5 1983 |
| PubMed ID: 6309372 |
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| Shireman RB, Remsen JF, Imipramine associations with plasma components and its uptake by cultured human cells. Life Sci33:2165-71 1983 |
| PubMed ID: 6645795 |
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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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| Shireman RB, Remsen JF, Uptake of [3H]cholesterol from low density lipoprotein by cultured human fibroblasts. Biochim Biophys Acta711:281-9 1982 |
| PubMed ID: 6284241 |
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| Via DP, Willingham MC, Pastan I, Gotto AM Jr, Smith LC, Co-clustering and internalization of low-density lipoproteins and alpha 2-macroglobulin in human skin fibroblasts. Exp Cell Res141:15-22 1982 |
| PubMed ID: 6180918 |
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| Remsen JF, Shireman RB, Effect of low-density lipoprotein on the incorporation of benzo(a)pyrene by cultured cells. Cancer Res41:3179-85 1981 |
| PubMed ID: 6265078 |
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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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| Ostlund RE Jr, Pfleger B, Schonfeld G, Role of microtubules in low density lipoprotein processing by cultured cells. J Clin Invest63:75-84 1979 |
| PubMed ID: 216709 |
| Passage Frozen |
7 |
| 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 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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