GM21570
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
|
Race
|
Hispanic/Latino
|
Ethnicity
|
Hispanic/Latino
|
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; joint pain and swelling; muscle pain and weakness; gingivitis; high palate; blue and gray sclerae; vision requires correction with glasses; pectus carinatum; upper abdomen is tender; systolic murmur in 3/6 mitral valve; left and right carotid bruit; soft skin; easy bruising; piezogenic papules; cervical kyphosis; scoliosis present degree R in upper thoracic spine; hyperextension in shoulders and knees; joint limitation in elbows hips, and CMC, MCP, PIP and DIP joints; PIP and DIP joints have bony enlargements and tenderness; pes planus; genu valga; on Synthroid for hyperthyroidism; moderate disc disease at C5-C7 and L5-S1 spine; central disc protrusion at L4-L5; facet arthrosis; affected daughter is GM21569 |
Split Ratio |
1:3 |
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 |
- |
|
|