GM21590
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE II; EDS2
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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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Race
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White
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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; post nasal drip; thirsty; pain in head, neck, shoulder and lumbar spine; dizzy; recent blood in stool; soft auricles; gingivitis; high palate; absent gag reflex; blue sclerae; mild downsloping ribs; mild pectus excavatum; pain in lower abdomen; blood pressure = 115/50; soft hyperextensible skin; cigarette paper and keloid scarring; midthigh striae; history of poor wound healing; many piezogenic papules; scoliosis in lower spine; flattening of thoracic spine; hyperextension of shoulders, elbows, hips and knees; hyperextension of B #4,5 PIP and DIP joints; hyperflexion of neck; pes planus; mild arachnodactyly; Beighton score 7/9; retroflexed odontoid with pannus and bone spurs in thoracic spine; dural ectasia in lumbar spine; disc buldge L5-S1 with facet arthrosis; no mutation found in the COL5A1 gene |
| 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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