GM21430
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
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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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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; classical type; joint pain and swelling; muscle pain and weakness; malar hypoplasia; extremely soft auricles; micrognathia, high palate with torus; cataracts; blue sclerae; downsloping ribs; diffuse and mild pain in abdomen; very faint left carotid bruit; soft doughy texture; hyperextensibility; cigarette paper scars on legs; striae on breast; easy bruising; degree L scoliosis present in lumbar spine; hyperextension in shoulders, elbows, hips and CMC, NCP, PIP and DIP joints; neck mobility limited to left and right; pes planus; genu valga; Beighton score = 7/9; visual field loss; sleep apnea; migraines; aspiration and chest pain; disc degeneration in spine (C5-C6, L5-S1) |
| Split Ratio |
1:2 |
| 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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