GM13428
LCL from B-Lymphocyte
Description:
MASA SYNDROME
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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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White
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Relation to Proband
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Developmental delay; mental retardation; adducted thumbs; 20 affected males in kindred |
| Yeatman GW, Mental retardation-clasped thumb syndrome. Am J Med Genet17:339-44 1984 |
| PubMed ID: 6538754 |
| dbSNP |
dbSNP ID: 18847 |
| NCBI GTR |
303350 MASA SYNDROME |
| OMIM |
303350 MASA SYNDROME |
| Omim Description |
ADDUCTED THUMB WITH MENTAL RETARDATION |
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CLASPED THUMB AND MENTAL RETARDATION |
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GAREIS-MASON SYNDROME |
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MASA SYNDROME |
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MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS,SYNDROME OF |
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THUMB, CONGENITAL CLASPED, WITH MENTAL RETARDATION |
| Split Ratio |
1:3 |
| 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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