GM10648
LCL from B-Lymphocyte
Description:
OSTEOCHONDRODYSPLASIA, RHIZOMELIC WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Family Member
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2
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Relation to Proband
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parent
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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 |
Clinically unaffected; 1 affected child not in Repository |
| Faye-Petersen OM, Ward K, Carey JC, Knisely AS, Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. Am J Med Genet40:183-7 1991 |
| PubMed ID: 1897572 |
| dbSNP |
dbSNP ID: 22841 |
| NCBI GTR |
166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION |
| OMIM |
166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION |
| Omim Description |
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION |
| 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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