GM10983
LCL from B-Lymphocyte
Description:
MARSHALL SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Black/African American
|
|
Family Member
|
3
|
|
Relation to Proband
|
sister
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Mother, maternal grandfather, & 2 sibs are also affected; hypertelorism; questionable developmental delay; heart murmur; ectodermal dysplasia; 46,XX in PBL; PCR amplification of the exons and the exon-intron boundaries of the 54 exons of COL2A1 and the 67 exons of COL11A1 concluded that neither a splicing mutation of 54-bp exon in the C-terminal region of COL11A1 nor the several mutations identified in COL2A1 in patients with MS/SS phenotype are the basis of MS in this family |
| Split Ratio |
1:5 |
| 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 |
- |
|
|