NTCC® NA01602 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01602

Name：NTCC® NA01602 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01602
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: 11 YR
Gender性别: Female
Description描述: MUCOPOLYSACCHARIDOSIS TYPE IVB | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I | GALACTOSIDASE, BETA-1; GLB1
Remarks: Normal level of N-acetylgalactosamine 6 sulfate sulfatase; less than 4% of control B-galactosidase activity using either 4MU-B-gal or GM1 ganglioside; similarly affected sister; donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H)
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GLB1
Disease疾病类型:
Mutations突变: ARG482HIS TRP273LEU
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