GM14080
LCL from B-Lymphocyte
Description:
SPINA BIFIDA
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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
|
White
|
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Lumbosacral myelomeningocele; similarly affected twin sister |
| dbSNP |
dbSNP ID: 17677 |
| NCBI GTR |
182940 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD |
| OMIM |
182940 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD |
| Omim Description |
ANENCEPHALY, INCLUDED |
| |
CAUDAL REGRESSION SYNDROME, INCLUDEDSACRAL AGENESIS, INCLUDED |
| |
NEURAL TUBE CLOSURE DEFECTS, INCLUDED |
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SPINA BIFIDA |
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SPINA BIFIDA APERTA, INCLUDED |
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SPINA BIFIDA CYSTICA, INCLUDED |
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SPINA BIFIDA OCCULTA, INCLUDED |
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SPINAL DYSRAPHIA, INCLUDED |
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T/t LOCUS, POSSIBLE EQUIVALENT OF |
| 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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