NTCC® NA00527 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00527

Name：NTCC® NA00527 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00527
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 1 YR
Gender性别: Male
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Remarks: 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)
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: HEXA
Disease疾病类型:
Mutations突变: IVS11+1G>C TRP420CYS
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
http://www.biovector.net