Description:
REFSUM 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 Lipid 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
|
|
Family Member
|
1
|
|
Relation to Proband
|
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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Elevated phytanic acid in blood, fat, other body fluids, and cultured skin fibroblasts; retinitis pigmentosa; see GM03896A Fibroblast |
| Dulaney JT, Williams M, Evans JE, Costello CE, Kolodny EH, Occurrence of novel branched-chain fatty acids in Refsum's disease. Biochim Biophys Acta529:1-12 1978 |
| PubMed ID: 76480 |
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