GM21746
Fibroblast from Skin, Unspecified
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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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 |
5.05 |
| 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; classical mitis form; Chiari I malformation and tethered cord; joint pain; joint swelling in fingers; muscle pain and weakness; epicanthal folds; high palate; deviated uvula; blue sclerae; systolic murmur in USB; soft skin; cigarette paper scars; striae on abdomen; piezogenic papules; kyphosis; hyperextension in shoulders, elbows, hips, knees and CMC, MCP, PIP and DIP joints; neck mobility limited in flexion, extension and to the right and left; pes planus; genu valga; Beighton score 9/9; migraines; pigeon toed; POTS; dural ectasia of the lumbar spine; DJD in cervical spine; affected twin sister is GM21747 Lymphoid; see GM21745 Lymphoid |
| Cumulative PDL at Freeze |
5.05 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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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