GM21549
Fibroblast from Skin, Unspecified
Description:
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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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; two carotid and one vertebral artery dissection in the last seven years; joint pain in heel; malar hypoplasia; beaked nose; overbite; micrognathia; high palate; tented pharynx; low gag reflex; left eye low field of vision and pigmented fundus; gray sclerae; abnormal chest wall; pectus excavatum; midsystolic click; mild carotid bruit left; varicosities; soft hyperextensible easily bruised skin; upper thoracic scoliosis; hyperextension in shoulders, elbows,hips and knees; limited neck mobility; mild pes planus; arachnodactyly; Beighton score = 9/9; headaches; bladder is falling; mild disc disease at L5-S1 with facet arthrosis; one son with joint hypermobility and hypotonia; negative studies for procollagen III electrophoretic motility; negative for COL3A1 mutation; see GM21548 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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