GM21556
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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Race
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More than one race
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Ethnicity
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CAUCASIAN/NATIVE AMERICAN
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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; joint pain and muscle weakness all over body; joint swelling in knees and ankles; malar hypoplasia; low gag reflex; high palate with large torus; blue sclerae; pectus excavatum; abnormal auscultation with rubs; 2/6 grade systolic murmur; mild left carotid bruit; soft skin; extensive striae on abdomen; large piezogenic papules; degree R upper thoracic scoliosis; hyperextension in shoulders, elbows, hips, and CMC, MCP, PIP and DIP joints; bony enlargements in PIP and DIP joints; pes planus; genu valga; mild degenerative disc disease at all levels of cervical spine; dural ectasia in thoracic spine; significant dural ectasia with dural cysts and facet arthrosis in lumbar spine; mild beading in head; affected father is GM21558 |
| 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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