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 |
| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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, 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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| 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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| 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 |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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