GM22216
Fibroblast from Skin, Arm
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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Arm
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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, Arm
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Family Member
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1
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Family History
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N
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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 |
4 |
| 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; Chiari I malformation; family history of aneurysm; epicanthal folds; soft auricles; overbite; gingivitis; micrognathia; high palate; abnormal gag reflex; blue sclerae; cyanosis; varicosities; soft skin; easy bruising; piezogenic papules; cigarette paper scars; striae; mild upper thoracic scoliosis; hyperextension in left elbow, hips, knees, and CMC, MCP and PIP joints; bony enlargements in the DIP joints; neck mobility limited in all directions; genu valga; Beighton score 8/9; flashes in left eye; daily occipital headaches; cannot lay on back; increased urination; subtle irregularity of the right A1 segment of cerebral arteries; slight reversal of normal curvature of C-Spine; mild disc disease with mild stenosis at C5-C6; small hemangioma in upper thoracic; mild disc dessication in mid thoracic; tiny spurs in mid thoracic; mild type 1 endplate changes at the inferior endplate of L5; disc desiccation with mild diffuse disc buldge at L5-S1 with central annular tear; mild facet arthrosis at L3-L4; see GM22215 Lymphoid |
| Cumulative PDL at Freeze |
4 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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