GM22509
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE III
|
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; midface hypoplasia; slightly soft auricles; beaked nose; mild micrognathia; high palate; mild blue sclerae; downsloping ribs; karatosis of palms and soles of feet; upper thoracic scoliosis; hyperextension of shoulders, elbows, and left hip; limitation in right hip; pes planus; arachnodactyly; Beighton score 2/9; slightly poor hearing; sharp stabbing pain in chest and legs; donor subject has tenascin XB mutation; two affected daughters are GM22503 and GM22510 |
| Split Ratio |
1:4 |
| 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 |
- |
|