GM22211
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
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; overbite; gingivitis; high palate; fullness in thyroid; blue sclerae; downsloping ribs; mild pectus excavatum; grade 2/6 USB systolic murmur; right carotid bruit; left and right femoral bruit; cigarette paper scars; easy bruising; piezogenic papules; lower thoracic scoliosis; cervical kyphosis; hyperextension in shoulders, hips, right knee and CMC joints; limitation in left knee, PIP and DIP joints; bony enlargements in MCP, PIP and DIP joints; neck mobility limited in all directions; pes planus; Beighton score 3/9; migraines; tinnitus; hyperacusis; asthma; chest pain with pulmonary hypertension; abdominal pain; see GM22212 Fibroblast |
Cumulative PDL at Freeze |
2 |
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 |
- |
|
|