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 |
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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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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 |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Diagnosed at age 25; neurological abnormalities; Kayser-Fleisher rings; low serum ceruloplasmin; increased urinary copper excretion; elevated hepatic copper level; no clinical features of liver disease; on penicillamine; see GM05797 Lymphoid |
| 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 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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