GM21673
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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| PDL at Freeze |
7.67 |
| Passage Frozen |
6 |
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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; joint swelling in feet and ankles; muscle pain; droopy eyelids; soft auricles; abnormal gag reflex; blue sclerae; coarse ausculation; midsystolic click; right carotid bruit; edema; soft skin; hyperextensibility; striae; piezogenic papules; scoliosis; hyperextension in shoulders, elbows, hips, knees (crepitus and tenderness in left) and CMC and MCP joints; bony enlargements in PIP and DIP joints; pes planus; genu valga; double vision; room spins when lying on back; hiatal hernia; incontinence; disc disease at C6-C7 in the C spine; dural ectasia disc disease at L5-S1 and facet arthrosis at L4-S1; see GM21672 Lymphoid |
| Cumulative PDL at Freeze |
7.67 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
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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