GM21665
Fibroblast from Skin, Arm
Description:
FIBROMUSCULAR DYSPLASIA OF ARTERIES
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Biopsy Source
|
Arm
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Arm
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.46 |
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Clinically affected; bilateral renal aneurysm; micrognathia; high palate; systolic murmur; carotid bruit left and right; aortic bruit present; soft skin; cigarette paper scars; striae; Piezogenic papules; degree R scoliosis in lumbar spine; hyperextension in shoulders, elbows, hips and right knee; limited neck mobility; pes planus; sacral dimple; mild facet arthrosis at L3-S1; mild dural ectasia; history of stenosis; see GM21664 Lymphoid |
Cumulative PDL at Freeze |
6.46 |
Passage Frozen |
3 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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 |
- |
|
|