GM21605
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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Family Member
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2
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Relation to Proband
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son
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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; muscle pain in lower back; malar hypoplasia; soft auricles; dental crowding; retrognathia; high palate; SM cleft; blue sclerae; near sighted; abnormal chest walls; downsloping ribs; pectus carinatum; USB systolic murmur grade 2/6; extremely soft skin; 3cm of hyperextensibility on forearm; cigarette paper scars; striae on back; degree L scoliosis in upper thoracic spine; kyphosis; hyperextensibility in shoulders, elbows, hips, knees and DIP joints; arachnodactyly; Beighton score = 6/9; occasional lightheadedness when upright; sphenoid sinusitis in C spine; small midthoracic syrinx in T spine; disc buldge at L4-L5; facet arthrosis at L5-S1; affected mother is GM21603 |
| 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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