NTCC® NA19903 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA19903

Name：NTCC® NA19903 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA19903
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 49 YR
Gender性别: Male
Description描述: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D | GLYCYL-TRNA SYNTHETASE; GARS
Remarks: Clinically affected; bilateral foot drop; sensation to cold is fine; marked distal weakness; proximal leg strength is fine; EMG at age 49 showed evidence for a sensorimotor axonal polyneuropathy; EMG at age 53 was compatible with a neuropathy affecting both motor and sensory axons, but motor fibers are affected to a far greater extent and the findings were not significantly different from those seen 4 years earlier; donor subject carries a G>C change at nucleotide 1236 (1236G>C) in the glycyl tRNA synthetase gene (GARS) which results in a glycine to arginine amino acid change at position 240 [Gly240Arg (G240R)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GARS
Disease疾病类型:
Mutations突变: GLY240ARG
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net