NTCC® NA02057 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02057

Name：NTCC® NA02057 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02057
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: 27 YR
Gender性别: Female
Description描述: ASPARTYLGLUCOSAMINURIA
Remarks: Finnish; less than 10% of normal Naspartyl-beta-glycosaminidase activity; the donor subject is heterozygous for a G-to-A transition (CGG>CAG) at nucleotide 482 of the AGA gene which results in a substitution of glutamine for arginine at codon 161 [Arg161Gln (R161Q)] and is homozygous for a G-to-C transversion (TGC>TCC) at nucleotide 488 of the AGA gene which results in a substitution of serine for cysteine at codon 163 [Cys163Ser (C163S)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: AGA
Disease疾病类型:
Mutations突变: ARG161GLN CYS163SER
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