NTCC® NA13765 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13765

Name：NTCC® NA13765 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13765
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: 10 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT403AIV3; diagnosed at ten years of age; donor subject is a compound heterozygote: the maternal allele of the ATM gene contains a two bp insertion at nucleotide 6405 (6405 insTT) at codon 2136 in exon 46 which results in a frameshift and a truncated protein; the paternal allele of the ATM gene contains a splicing site mutation (IVS62+1 G>A) which results in the skipping of exon 62, a frameshift and truncation.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ATM
Disease疾病类型:
Mutations突变: 6405insTT IVS62+1G>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