NTCC® NA01881 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01881

Name：NTCC® NA01881 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01881
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: 3 YR
Gender性别: Male
Description描述: MUCOPOLYSACCHARIDOSIS TYPE IIIA | N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH | TRANSLOCATED CHROMOSOME
Remarks: Deficient heparan N-sulfatase; normal alpha-N-acetylglucosaminidase activity; 46,XY,t(1;21)(1qter>1p31::21q22>21qter; 21pter>21q22::1p31>1pter), balanced; excessive heparan sulfate in urine; donor subject is a compound heterozygote: one allele has a missense mutation (C>G) at nucleotide 209 (209C>G) of the SGSH gene [Ser66Trp(S66W)]; the second allele has a Val to Met change at codon 131 [Val131Met (V131M)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SGSH
Disease疾病类型:
Mutations突变: SER66TRP VAL131MET
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