GM21504
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 |
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 fibromuscular dysplasia; no dissection or stroke; history of leg pain; dental crowding; overbite; high arched palate; nystagmus; blue sclerae; downsloping ribs; pectus excavatum; carotid bruit left; cyanosis with mottling; blood pressure 129/76; very soft hyperextensible skin (73cm skin extension measurement); piezogenic papules; severe lumbar scoliosis; upper thoracic kyphosis; hyperextension in shoulders, elbows, hips and knees; pes planus; genu valga; arachnodactyly; Beighton score = 8/9; hearing loss; tinnitus; C-spine: 5mm tonsillar herniation, Chiari 1 malformation, cyringomyelia C4-C6, retroflexed odontoid with pannus formation, disc bulge herniations C6-C7 and C4-C6 with moderate stenosis of spinal canal; T-spine: desiccation of discs, multiple Schmorl nodes; L-spine: dural ectasia, perineral cyst and degenerative discs at all levels; see GM21503 Lymphoid |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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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