NA11778
DNA from Fibroblast
Description:
WILSON DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
| Quantity |
50 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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Ethnicity
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SAUDI ARABIAN
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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 |
4 |
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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 |
Clinically affected; fibroblast collected from fibroconnective tissue of hepatic hilum ; high serum copper & low ceruloplasmin; received penicillamine treatment; 2 similarly affected brothers have received liver transplants (samples not in repository); father is GM11811. |
| Krishnan N1, Felice C1, Rivera K1, Pappin DJ1, Tonks NK1., DPM-1001 decreased copper levels and ameliorated deficits in a mouse model of Wilson's disease Genes and Development
32:944-952 2018 |
| PubMed ID: 29945887 |
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