GM04863 TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | GLUCOSIDASE, ACID BETA; GBA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04863 TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | GLUCOSIDASE, ACID BETA; GBA Cell Line
泰-萨克斯病； TSD |氨基己糖苷酶A；六角 |葡萄糖苷酶，酸性β；大湾区细胞株
Description描述：Ashkenazi; clinically normal; possible variant; 25% normal hexosaminidase A in leukocytes, 9% in fibroblasts, and none in serum or plasma; both parents have heterozygous levels of hexosaminidase A; donor subject is heterozygous for a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene [1278insTATC] that introduces a premature termination signal in the exon resulting in deficiency of mRNA and heterozygous for a benign C>T mutation at nucleotide 739 in exon 7 (739C>T) resulting in the substitution of tryptophan for arginine at codon 247 [Arg247Trp (R247W)]; donor subject also is heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [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®-GM04863
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:2 YR
Gender性别:Male
Cell Type细胞类型: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | GLUCOSIDASE, ACID BETA; GBA
Affected State:No
Product:Fibroblast
Gene:GBA HEXA
Mutations突变:ARG247TRP ASN370SER c.1274_1277dupTATC
Ethnicity:JEWISH
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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