Description:
PELIZAEUS-MERZBACHER DISEASE; PMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| 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
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Sample Source
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DNA from LCL
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|
Race
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White
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Ethnicity
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GERMAN/IRISH
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Family Member
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2
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Relation to Proband
|
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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Height, weight, & head circumference <5th %ile; visual handicap; quadriparesis; onset at age 3 mo; MRI confirmed diagnosis at age 6 mo; son of GM11002 |
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