GM13522 GLYCOGEN STORAGE DISEASE II Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM13522 GLYCOGEN STORAGE DISEASE II Cell Line
糖原贮积病 II细胞株
Description描述：Clinically affected; classic infantile type; marked cardiomegaly; cardiomyopathy; cardiac failure; muscle weakness; respiratory insufficiency; muscle biopsy showed acid maltase deficiency; expired at age 6 mo; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1979 of the GAA gene (c.1979G>A) resulting in the substitution of histidine for arginine at codon 660 [Arg660His (R660H)]; the second allele has a C>T transition at nucleotide 2560 in exon 18 (c.2560C>T) resulting in a stop at codon 854 [Arg854Ter (R854X)]
Category分类：Fibroblast
ID编号:NTCC®-GM13522
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: Black/African American
Age年龄:4 MO
Gender性别:Male
Cell Type细胞类型: GLYCOGEN STORAGE DISEASE II
Affected State:Yes
Product:Fibroblast
Gene:GAA
Mutations突变:ARG660HIS ARG854TER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net