GM21747
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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twin sister
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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; tested negative for COL3A1 gene mutations; classical mitis form; history of diverticular rupture and gastroporesis; Chiari I malformation; joint and muscle pain; epicanthal folds; high palate; dull TM left; blue sclerae; systolic murmur grade 2/6; aortic bruit; right and left carotid bruit; soft hyperextensible skin; piezogenic papules; lumbar scoliosis; cervical kyphosis; hyperextension in shoulders; elbows, hips, knees, and CMC, MCP, PIP and DIP joints; limited neck mobility in all directions; pes planus; migraines; intestinal cystitis; not much exercise; affected twin sister is GM21745 |
| Split Ratio |
1:3 |
| 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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