GM00515泰-萨克斯病； TSD |氨基己糖苷酶A； HEXA成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00515 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：Pericardium fibro cult; Jewish; similarly aff sib; def hexosaminidase A activ; electrophoresis shows absence of A band; no detectable alpha chain synthesis; no detectable alpha chain mRNA; donor subject is a compound heterozygote: one allele has a 4-bp insertion in exon 11 of the HEXA gene [4 bp ins] that introduces a premature termination signal in exon 11 resulting in deficiency of mRNA and a second allele has a point mutation in exon 11 of the HEXA gene resulting in a substitution of a termination signal for tryptophan at codon 392 [Trp392Ter (W392X)].
Category分类：Fibroblast
ID编号:NTCC®-GM00515
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:Female
Cell Type细胞类型: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Affected State:Yes
Product:Fibroblast
Gene:HEXA
Mutations突变:c.1274_1277dupTATC TRP392TER
Ethnicity:JEWISH
Family:58
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:

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