GM22100
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
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
|
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; dolicocephaly; malar hypoplasia; deviated nasal bridge; soft wrapped auricles; curved left ear canal; overbite; gingivitis; micrognathia; high palate; puffy thyroid; abnormal chest wall; pectus carinatum; decreased breathing sounds; abnormal bowel sounds; midsystolic click; soft skin; striae; upper thoracic scoliosis; hyperextension in shoulders, elbows, hips, and CMC joints; neck mobility limited in all directions; genu vara; arachnodactyly; Beighton score 4/9; visual floaters; bad headaches with spells for two weeks; hyperacues in both ears; reflux-related cough; hypermobile urethra; mild disc disease at T2; lumbar dural ectasia; mild disc protrusion with minimal left neural foraminal narrowing at L3-L4; mild disc disease with mild stenosis at C3-C7; negative for COL31A, TGFBR1 and TGFBR2 gene mutations; see GM22101 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 |
- |
|