GM22214
Fibroblast from Skin, Arm
Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
FIBROMUSCULAR DYSPLASIA OF ARTERIES
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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 |
4.6 |
| 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; also has fibromuscular dysplasia; abnormal auricles; micrognathia; high palate; wide pharynx; reduced gag reflex; gray sclerae; pectus carinatum; midsystolic click; abnormal scarring; striae; piezogenic papules; midthoracic scoliosis; limitation in shoulders, elbows, and hips; neck mobility limited in all directions; hyperextension in CMC, MCP, PIP and DIP joints; pain on passive motion in shoulders, elbows, and hips; mild pes planus, genu vara, and genu valga; Beighton score 1/9; periodic sinus headaches; choking and gasping for air when asleep, possible sleep apnea; constant diarrhea; common iliac artery and right renal artery are small with slight irregularity; small cyst in the ethmoid sinus; minimal disc disease at C6-C7; disc desiccation at T9-T10; conus terminates at L2; small hemangioma in the S3 vertebral body; mild facet arthrosis on the left side at L4-L5; minimal facet arthrosis at L5-S1; previous laminectomies at L4/L5; see GM22213 Lymphoid |
| Cumulative PDL at Freeze |
4.6 |
| 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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