NA00486
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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| 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; see GM01459B Lymphoid |
| 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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| Medh JD, Bowen SL, Fry GL, Ruben S, Hill J, Wong H, Chappell DA, Hepatic triglyceride lipase promotes low density lipoprotein receptor-mediated catabolism of very low density lipoproteins in vitro. J Lipid Res40:1263-75 1999 |
| PubMed ID: 10393211 |
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| Bjorkegren J, Karpe F, Vitols S, Tornvall P, Hamsten A, Transient triglyceridemia in healthy normolipidemic men increases cellular processing of large very low density lipoproteins by fibroblasts in vitro. J Lipid Res39:423-36 1998 |
| PubMed ID: 9508002 |
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| Medh JD, Bowen SL, Fry GL, Ruben S, Andracki M, Inoue I, Lalouel JM, Strickland DK, Chappell DA, Lipoprotein lipase binds to low density lipoprotein receptors and induces receptor-mediated catabolism of very low density lipoproteins in vitro. J Biol Chem271:17073-80 1996 |
| PubMed ID: 8663292 |
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| Yen FT, Mann CJ, Guermani LM, Hannouche NF, Hubert N, Hornick CA, Bordeau VN, Agnani G, Bihain BE, Identification of a lipolysis-stimulated receptor that is distinct from the LDL receptor and the LDL receptor-related protein. Biochemistry33:1172-80 1994 |
| PubMed ID: 7509190 |
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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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| Scott, Stimulation of lipid synthesis in human skin fibroblasts by platelet derived growth factor. Fed Proc40:351 (1981):352-60 1981 |
| PubMed ID: 2963664 |
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| Kaneko I, Hazama-Shimada Y, Endo A, Inhibitory effects on lipid metabolism in cultured cells of ML-236B, a potent inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme-A reductase. Eur J Biochem87:313-21 1978 |
| PubMed ID: 668696 |
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