GM21560
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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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; affected mother is GM21559; maternal grandmother died of aortic aneurysm; aunt has fibromuscular dysplasia; joint pain; muscle pain in legs and shoulders; muscle weakness in limbs; soft auricles; micrognathia; high palate; blue sclerae; diffuse tenderness and pain in abdomen; systolic murmur; soft skin; abnormal scarring; easy bruising on limbs; piezogenic papules; degree R scoliosis in upper thoracic spine; hyperextension of shoulders, elbows, hips, knees, and CMC, MCP, PIP and DIP joints; neck mobility limited to right and left; pes planus present when weight bearing; low appetite; poor sleep; frequent headaches; orthopnea; L5-S1 disc buldge, spondylolisthesis and dural ectasia |
| Split Ratio |
1:5 |
| 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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