NTCC® NA13652 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13652

Name：NTCC® NA13652 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13652
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: 30 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; deceased; diagnosed with ataxia at 1.5 years of age, telangiectasias at 6 years of age, and ataxia-telangiectasia a little past 6 years of age; elevated AFP; new NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.7630-2A>C (splice acceptor) and c.8655dup (p.Val2886Cysfs*10); alternate ID AT128AIV3.
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: c.7630-2A>C c.8655dup (p.Val2886Cysfs*10)
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