GM21483
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE III
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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Family Member
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1
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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 LINE assay |
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| Remarks |
Clinically affected; hypermobile; C spine tonsillar ectopia 2 mm; pannus around odontoid; C3-C7 mild disc buldge; dural ectasia; disc desiccation throughout lumbar and thoracic spine at multiple levels; high palate; low gag; gray sclerae; prominent veins; thickened mitral valve; blood pressure = 142/81; hyperextensible skin; cigarette paper scarring; striae; poor wound healing; piezogenic papules; mild upper thoracic scoliosis; cervical kyphosis; hyperextension of shoulders, elbows, hips, and knees and CMC,MCP,PIP and DIP joints; pes planus; genu valga; arachnodactyly; Beighton score = 9/9; abdominal pain; fatigue; see GM21484 Fibroblast |
| 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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