NA01386
DNA from Fibroblast
Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
APPARENTLY HEALTHY INDIVIDUAL
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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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4
|
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Relation to Proband
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brother
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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 |
6.9 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Clinically unaffected; normal plasma cholesterol; 46,XY; 14% of cells are tetraploid at passage 5; affected sister is GM01355; affected mother is GM01354; affected father is GM01385. |
| Keyel PA, Watkins SC, Traub LM, Endocytic adaptor molecules reveal an endosomal population of clathrin by total internal reflection fluorescence microscopy. J Biol Chem279(13):13190-204 2004 |
| PubMed ID: 14722064 |
| |
| Eller MS, Li GZ, Firoozabadi R, Puri N, Gilchrest BA, Induction of a p95/Nbs1-mediated S phase checkpoint by telomere 3' overhang
specific DNA. FASEB J17(2):152-62 2003 |
| PubMed ID: 12554694 |
| |
| 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 |
|