Name：NTCC? NA19903 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA19903
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 49 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: GARS
Disease疾病類型:
Mutations突變: GLY240ARG
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net