GM07447
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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Race
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More than one race
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Country of Origin
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USA
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Family Member
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4
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Relation to Proband
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nephew
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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 |
Asian/Caucasian; progressive white matter loss; optic atrophy; epilepsy; quadriplegia; dementia; leukodystrophy; son of GM07446B |
| Koeppen AH, Ronca NA, Greenfield EA, Hans MB, Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol21:159-70 1987 |
| PubMed ID: 3827224 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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