GM02094桑霍夫病 |氨基己糖苷酶B； HEXB 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02094 SANDHOFF DISEASE | HEXOSAMINIDASE B; HEXB Cell Line
桑霍夫病 |氨基己糖苷酶B；十六进制B细胞株
Description描述：Juvenile; cerebellar ataxia; severe mental retardation; deficient hexosaminidase A and B; same patient as GM02144; normal level of fibro preBchain mRNA; 3% of normal fibro Hex A activity; Hex B gene shows no gross abnormalities; point mutation in 1 beta-chain allele (c.1509-26G>A), resulting in an a 24-base insertion between exons 12 and 13 in cDNA. Mutation in the other allele is unknown.
Category分类：Fibroblast
ID编号:NTCC®-GM02094
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:12 YR
Gender性别:Male
Cell Type细胞类型: SANDHOFF DISEASE | HEXOSAMINIDASE B; HEXB
Affected State:Yes
Product:Fibroblast
Gene:HEXB
Mutations突变:24-BP INS
Ethnicity:
Family:432
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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