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GM21469
Fibroblast
from
Skin, Unspecified
Description:
FIBROMUSCULAR DYSPLASIA OF ARTERIES
Affected:
Yes
Sex:
Female
Age:
44
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Biopsy Source
Unspecified
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Unspecified
Family Member
1
Relation to Proband
proband
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; carotid dissection; stroke; muscle pain in shoulder; severe neck pain; poping pelvic joints; high palate; blue-gray sclerae; pectus carinatum; carotid bruit right; femoral bruit; cyanosis; blood pressure 135/75; soft easily bruised skin; Piezogenic papules; upper thoracic scoliosis; hyperextension of shoulders, hips and knees; pes planus; genu valga; central disc extrusion at C5-C6 causing moderate spinal canal stenosis; also C5-C6 neural foraminal narrowing; see GM21468 Lymphoid
Passage Frozen
4
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Remarks
Clinically affected; carotid dissection; stroke; muscle pain in shoulder; severe neck pain; poping pelvic joints; high palate; blue-gray sclerae; pectus carinatum; carotid bruit right; femoral bruit; cyanosis; blood pressure 135/75; soft easily bruised skin; Piezogenic papules; upper thoracic scoliosis; hyperextension of shoulders, hips and knees; pes planus; genu valga; central disc extrusion at C5-C6 causing moderate spinal canal stenosis; also C5-C6 neural foraminal narrowing; see GM21468 Lymphoid
No data is available
NCBI GTR
135580 FIBROMUSCULAR DYSPLASIA; FMDA
OMIM
135580 FIBROMUSCULAR DYSPLASIA; FMDA
Omim Description
FIBROMUSCULAR DYSPLASIA OF ARTERIES
No data is available
Passage Frozen
4
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
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
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