GM10181
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
R296C; S486T; DEBRISOQUINE, ULTRARAPID METABOLISM OF |
| Identified Mutation |
ARG296CYS AND SER486THR |
| Remarks |
Clinically unaffected; 1 affected son |
| 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 |
- |
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