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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
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DNA from LCL
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|
Race
|
White
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|
Family Member
|
1
|
|
Relation to Proband
|
proband
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|
Confirmation
|
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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| 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; incr urinary copper excretion; elev hepatic copper level; no clinical features of liver disease; on penicillamine; see GM05798 Fibroblast |
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