NA02408
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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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 |
7.66 |
| Passage Frozen |
10 |
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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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| URACIL DNA GLYCOSYLASE |
Seal et al (Proc Natl Acad Sci USA 85:2339-2343, 1988) reported that monoclonal antibody, 40.10.09 to normal uracil DNA glycosylase had normal immunoreactivity with the uracil DNA glycosylase from this cell culture. In contrast, the antibody did not recognize or inhibit the native enzyme from five different Bloom syndrome cultures. |
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| Remarks |
Normal receptor binding with defective receptor internalization; line JD; internalization index is 2 vs 17-48 for normocholesterolemic fibroblast cultures |
| 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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| Passeggio J, Liscum L, Flux of fatty acids through NPC1 lysosomes The Journal of biological chemistry280:10333-9 2005 |
| PubMed ID: 15632139 |
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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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| 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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| Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988 |
| PubMed ID: 3353381 |
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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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| 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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| Barak LS, Webb WW, Diffusion of low density lipoprotein-receptor complex on human fibroblasts. J Cell Biol95:846-52 1982 |
| PubMed ID: 6296157 |
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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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| 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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| 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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| Innerarity TL, Pitas RE, Mahley RW, Receptor binding of cholesterol-induced high-density lipoproteins containing predominantly apoprotein E to cultured fibroblasts with mutations at the low-density lipoprotein receptor locus. Biochemistry19:4359-65 1980 |
| PubMed ID: 7417411 |
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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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| Brown MS, Goldstein JL, Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein. Cell9:663-74 1976 |
| PubMed ID: 189940 |
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