GM22053
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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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
5.91 |
| 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; wide oral cavity; overbite; gingivitis; micrognathia; high palate; abnormal pharynx; low gag reflex; large pupils; nystagmus eye movement; blue sclerae; pectus excavatum; quiet bowel sounds; MSB systolic murmur grade 2/6; cigarette paper scars; striae; piezogenic papules; upper thoracic scoliosis; hyperextension in right shoulder, elbows, hips,left knee, and CMC, MCP, PIP and DIP joints; left shoulder has limited mobility; Beighton score 6/9; loss of near vision, floaters and astigmatism; migraines; hypersensitive hearing; swallowing problems; acid reflux; constipation; extreme urinary problems; 3 mm aneurysm at origin of left posterior communicating artery; mild to moderate disc disease at C4-5 causing mild to moderate stenosis; mild disc disease at C5-7; small disc causing stenosis at C7-T1; minimal disc disease in mid thoracic; grade 1 anterolisthesis of L5 compared with S1; disc desiccation and mild diffuse disc buldge at L2-3; mild dural ectasia; negative for COL3A1 gene mutation; see GM22052 Lymphoid |
| Cumulative PDL at Freeze |
5.91 |
| Passage Frozen |
3 |
| 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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