GM00527 TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00527 TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA Cell Line
泰-萨克斯病； TSD |氨基己糖苷酶A；六角形细胞株
Description描述：Deficient hexosaminidase A; normal-sized B-hexosaminidase alpha subunit mRNA; compound heterozygote: 1 allele has a single nucleotide transversion at nucleotide 1260 in exon 11 of the HEXA gene (c.1260G>C) resulting in the substitution of cysteine for tryptophan at codon 420 [Trp420Cys (W420C)]; the other allele has an IVS11+1G>C (c.1330+1G>C)
Category分类：Fibroblast
ID编号:NTCC®-GM00527
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:1 YR
Gender性别:Male
Cell Type细胞类型: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Affected State:Yes
Product:Fibroblast
Gene:HEXA
Mutations突变:IVS11+1G>C TRP420CYS
Ethnicity:
Family:1300
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
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