NTCC® NA03461 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA03461

Name：NTCC® NA03461 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03461
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: 24 YR
Gender性别: Male
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Remarks: Ashkenazi; variant; deficient hexosaminidase A; weakness and ataxia; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 805 in exon 7 of the HEXA gene [805G>A] resulting in a substitution of serine for glycine at codon 269 [Gly269Ser (G269S)] and a second allele has a splice site mutation with a G>C transversion in the first nucleotide of intron 12 [IVS12+1G>C].
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: GLY269SER IVS12DS, G>C, +1
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