NA00483
DNA from Fibroblast
Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
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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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Tissue Type
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Skin
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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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Country of Origin
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USA
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Family Member
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2
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Relation to Proband
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mother
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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 Isoenzyme Electrophoresis |
| |
| Gene |
LDLR |
| Chromosomal Location |
19p13.2-p13.1 |
| Allelic Variant 1 |
606945.0015; HYPERCHOLESTEROLEMIA, FAMILIAL |
| Identified Mutation |
CYS646TYR |
| Remarks |
Affected mother of a clinically diagnosed receptor negative child (GM00488); elevated plasma cholesterol; donor subject has one allele which has a G>A (TGT>TAT) transition at nucleotide 2000 in exon 14 of the LDLR gene (2000G>A) resulting in the substitution of tyrosine for cysteine at codon 646 [Cys646Tyr (C646Y)]- for methods, please refer to publication by Bodamer et al. (PMID 12406975); see same subject B-lymphocyte (GM01460). |
| 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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| 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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