GM21669
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
|
|
| PDL at Freeze |
11.27 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; carotid dissection; joint pain and swelling; midface hypoplasia; soft auricles with hypoplastic lobes; high palate; low gag reflex; cataracts; gray sclerae; abnormal chest wall; downsloping ribs; pectus excavatum; palpable mass in abdomen; carotid bruit left; varicosities; edema; soft hyperextensible skin; cigarette paper scars; poor wound healing; easy bruising; Piezogenic papules; scoliosis; hyperextension in shoulders, elbows, hips and knees; bony enlargements in joints; limited neck mobility; pes planus; high frequency hearing loss; severe degenerative disc disease in C-spine; multilevel perineural cysts; dural ectasia and severe disc disease in L-spine; see GM21668 Lymphoid |
| Cumulative PDL at Freeze |
11.27 |
| Passage Frozen |
5 |
| 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 |
- |
|