GM21671
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; carotid, renal and brain vessels are all affected; joint and muscle pain; weakness in shoulders, knees and legs; malar hypoplasia; soft auricles; beaked nose; nicrognathia; high palate; gray sclerae; pectus excavatum; carotid bruit right; femoral bruit left; varicosities on ankles and feet; blood pressure 121/62; soft mildly hyperextensible skin; striae; Piezogenic papules; scoliosis; mild kyphosis; hyperextension in shoulders, elbows and hips; limited neck mobility; pes planus; Beighton score = 2/9; 10 % hearing loss; trouble swallowing; multiple perineural cysts in C-spine; dural ectasia in L-spine and T-spine; disc disease at L5-S1 and L2-L3; see GM21670 Lymphoid |
| Cumulative PDL at Freeze |
4.29 |
| 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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