NA01385
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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3
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Relation to Proband
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father
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; elevated plasma cholesterol(334 mg/dL); no xanthomas; father of affected child(GM01355) and unaffected child(GM01386); affected spouse is GM01354. |
| Giometti CS, Gemmell MA, Anderson NL, Two different variants of the same tropomyosin polypeptide in clones from GM1386 human skin fibroblasts. Biochem Biophys Res Commun128:1247-53 1985 |
| PubMed ID: 4004860 |
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