GM21604
Fibroblast from Skin, Unspecified
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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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; muscle pain in chest; soft auricles; dental crowding; micrognathia; high palate; blue sclerae; pectus carinatum; tender in lower left quadrant of abdomen; midsystolic click; cyanosis; soft hyperextensible skin; striae; degree R scoliosis in lumbar spine; hyperextension in shoulders, elbows, hips and CMC, MCP, PIP and DIP joints; genu valga; arachnodactyly; poor sleep; visual floaters and lazy eye; food intolerence; heavy and painful menses; disc buldges at C4-C6 spine; dural ectasia at L4-L5; disc buldge and facet arthrosis at L4-S1; affected son is GM21605 Lymphoid; see GM21603 Lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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