NTCC® NA09787 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA09787

Name：NTCC® NA09787 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09787
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: Female
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | ASPARTOACYLASE; ASPA
Remarks: Clinically affected; modified & slower onset than typical Tay-Sachs; absent hexosaminidase A activity as judged by MUGS assay; 46,XX in peripheral blood lymphocytes; donor subject is heterozygous for a G>A splice site mutation in intron 9 of the HEXA gene: c.1073+1 G>A (IVS9+1 G>A); parents (not in repository) carry 2 different mutations; negative for familial dysautonomia (FD) and Canavan diseases.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: HEXA
Disease疾病类型:
Mutations突变: c.1073+1 G>A (IVS9+1 G>A)
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