GM21819
Fibroblast from Skin, Unspecified
Description:
EHLERS-DANLOS SYNDROME, TYPE III
|
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
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.64 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; myopathy; Marfanoid body habitus; malar hypoplasia; TM right, left abnormal; micrognathia; high palate; wide pharynx; gray sclerae; downsloping ribs; mild pectus excavatum; low bowel signs; cyanosis; velvety skin; easy bruising; piezogenic papules; upper thoracic scoliosis; hyperextension in shoulders, elbows, hips and CMC, MCP, PIP and DIP joints; pes planus; genu valga; arachnodactyly; Beighton score 7/9; poor sleep; deaf in left ear; occasional stabbing chest pain; constipation; donor subject tested negative for COL3A1 gene mutations |
| Cumulative PDL at Freeze |
4.64 |
| Passage Frozen |
2 |
| 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 |
- |
|
|