GM12125
LCL from B-Lymphocyte
Description:
SPONASTRIME DYSPLASIA
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
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LCL from B-Lymphocyte
|
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Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
father
|
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Confirmation
|
Clinical summary/Case history
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|
Species
|
Homo sapiens
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|
Common Name
|
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 |
Clinically unaffected; 2 affected children |
| Lachman RS, Stoss H, Spranger J, Sponastrime dysplasia A radiologic-pathologic correlation Pediatric radiology19:417-24 1989 |
| PubMed ID: 2771481 |
| 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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