Description:
PELIZAEUS-MERZBACHER DISEASE; PMD
APPARENTLY HEALTHY INDIVIDUAL
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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 |
| Alternate IDs |
GM17287 [PELIZAEUS-MERZBACHER DISEASE; PMD] |
| 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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ITALIAN
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Family Member
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5
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Relation to Proband
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father
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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 |
Two affected sons |
| Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005 |
| PubMed ID: 16421712 |
| |
| Gencic S, Abuelo D, Ambler M, Hudson LD, Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet45:435-42 1989 |
| PubMed ID: 2773936 |
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