GM21639
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
|
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
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; negative collagen I and III studies; iliac arterial dissection; several family members with aneurysms; affected brother is GM22034; joint pain; joint swelling in ankles; prominent forehead; epicanthal fold; malar hypoplasia; soft auricles; abnormal ear canals; micrognathia; wide palate; SM cleft; blue sclerae; pectus carinatum; pain and tenderness in abdomen; left and right carotid bruit; soft hyperextensible skin; cigarette paper and keliod scarring; easy bruising; piezogenic papules; hyperextension in shoulders, elbows, hips, knees and CMC, MCP, PIP and DIP joints; pes planus; genu valga; chokes in sleep; visual floaters; headaches; rib pain; urinary tract infections; mild disc disease at C4-C7; grade I spondylolisthesis in L5-S1 lumbar spine; disc extrusion at L4-S1; see GM21640 Fibroblast; molecular analysis of this donor subject with respect to the COL5A1 gene showed one allele as wild type and one allele with a G>A change in exon 52 (null allele) |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|
|