GM22034
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
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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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brother
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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; family history of strong vascular features; malar hypoplasia; soft auricles; high wide palate; blue sclerae; abnormal chest wall; soft hyperextensible skin; cigarette paper scars; poor wound healing; molluscoid pseudotumors; piezogenic papules; scoliosis in lower thoracic spine; hyperextension in shoulders, elbows, hips, knees, and CMC, MCP, PIP and DIP joints; dislocations in left shoulder; neck motility limited to left and right; hearing loss; history of esophageal pain; asthma; occasional chest pain; mild focal narrowing of the proximal celiac axis; scattered irregularity of the superior mesenteric artery; large left kidney; reversal of normal cervical lordosis; mild posterior disc protrusion at C5-C7; mild internal degeneration of the L5-S1 discs with very mild posterior protrusion; mild osteoarthritic changes at the lumbar facets; moderate changes at L1-L3; affected sister is GM21639 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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