GM02627II 型戈谢病 |葡萄糖苷酶，酸性β； GBA成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02627 GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA Cell Line
II 型戈谢病 |葡萄糖苷酶，酸性β；大湾区细胞株
Description描述：Atypical; subacute neuropathic Gaucher; myoclonus; seizures; expired at age 3 due to pneumonia; 24% of control fibroblast glucocerebrosidase activity; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1090 in exon 8 of the GBA gene (1090G>A) resulting in a substitution of arginine for glycine at codon 325 [Gly325Arg(G325R)]; the second allele has a T>G transition at nucleotide 1141 in exon 8 (1141T>G) resulting in the substitution of glycine for cysteine at codon 342 [Cys342Gly(C342G)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]
Category分类：Fibroblast
ID编号:NTCC®-GM02627
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: White
Age年龄:3 YR
Gender性别:Female
Cell Type细胞类型: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Affected State:Yes
Product:Fibroblast
Gene:GBA
Mutations突变:CYS342GLY GLY325ARG
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
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