GM22213
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
FIBROMUSCULAR DYSPLASIA OF ARTERIES
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; also has fibromuscular dysplasia; abnormal auricles; micrognathia; high palate; wide pharynx; reduced gag reflex; gray sclerae; pectus carinatum; midsystolic click; abnormal scarring; striae; piezogenic papules; midthoracic scoliosis; limitation in shoulders, elbows, and hips; neck mobility limited in all directions; hyperextension in CMC, MCP, PIP and DIP joints; pain on passive motion in shoulders, elbows, and hips; mild pes planus, genu vara, and genu valga; Beighton score 1/9; periodic sinus headaches; choking and gasping for air when asleep, possible sleep apnea; constant diarrhea; common iliac artery and right renal artery are small with slight irregularity; small cyst in the ethmoid sinus; minimal disc disease at C6-C7; disc desiccation at T9-T10; conus terminates at L2; small hemangioma in the S3 vertebral body; mild facet arthrosis on the left side at L4-L5; minimal facet arthrosis at L5-S1; previous laminectomies at L4/L5; see GM22214 Fibroblast |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|