GM21506
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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Race
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White
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; carotid and renal fibromuscular dysplasia; joint pain; malar hypoplasia; overbite; micrognathia; high palate; small nodule on left thyroid; absent gag reflex; abnormal pupil reaction and shape; downsloping ribs; pectus excavatum; systolic and diastolic murmur; carotid bruit left and right; blood pressure 117/66; hyperextensible skin, easily bruised; Piezogenic papules; upper thoracic scoliosis; cervical kyphosis; hyperextension in shoulders, elbows, hips and knees; neck mobility limited; pes planus present when standing; Beighton score = 5/9; difficulty swallowing; intermittent blurred vision; C-spine: disc disease at C6-C7 and C4-C5, low lying tonsils and pannus around odontoid; T-spine: dural ectasia throughout, disc disease at T2-T3; L-spine: spondylolisthesis at L5-S1 with dural cyst, facet arthrosis at all levels; see GM21505 Lymphoid |
| Passage Frozen |
3 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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