GM21432
Fibroblast from Skin, Unspecified
Description:
FIBROMUSCULAR DYSPLASIA OF ARTERIES
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
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Clinically affected; hip joint pain; hand weakness; soft tissue pain; blue sclerae; pectus carinatum; heart murmur; carotid bruit left and right; femoral bruit left and right; cyanosis; blood pressure 131/87; soft skin; keloid on back; cigarette paper texture on abdominal c-section scar; Piezogenic papules; upper thoracic scoliosis; hyperextension of shoulders, left elbow, hips, and left knee; pes planus in anterior part; migraines; loose stools; hypererectomy; goiter problems; minimal disc disease; minimal dural ectasia; see GM21431 Lymphoid |
Cumulative PDL at Freeze |
5.2 |
Passage Frozen |
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 |
- |
|
|