GM19903夏科-玛丽-图斯病，轴突，2D 型； CMT2D |甘氨酰-TRNA 合成酶； GARS B淋巴细胞LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM19903 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D | GLYCYL-TRNA SYNTHETASE; GARS B-Lymphocyte Cell Line
夏科-玛丽-图斯病，轴突，2D 型； CMT2D |甘氨酰-TRNA 合成酶；伽斯细胞株
Description描述：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)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM19903
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:49 YR
Gender性别:Male
Cell Type细胞类型: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D | GLYCYL-TRNA SYNTHETASE; GARS
Affected State:Yes
Product:LCL
Gene:GARS
Mutations突变:GLY240ARG
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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