GM21555
Fibroblast from Skin, Unspecified
Description:
EHLERS-DANLOS SYNDROME, TYPE III
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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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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; hypermobile; soft stretchy skin; joint pain; joint swelling in right ankle; muscle weakness in right arm and leg; soft auricles; high palate with tonus; abnormal gag reflex; blue sclerae; abnormal chest wall; pectus carinatum; diffuse tenderness in lower abdomen; blood pressure = 113/64; abnormal scars on arm; easy bruising; scoliosis in upper and lower thoracic spine; hyperextension in shoulders, elbows, hips, knees and CMC, MCP, PIP and DIP joints; pes planus in toes; Beighton score = 9/9; hearing loss in right ear; spinal disc disease at C4-C6; multiple Schmorl nodes in L spine; diffuse facet arthrosis; see GM21554 Lymphoid |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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