NTCC® NA11265 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11265

Name：NTCC® NA11265 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11265
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: 6 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT31LA; onset of ataxia at age 3; AFP (379); few infections; 46,XX,t(7;14); new NGS data revealed that donor subject is a compound heterozygote with two pathogenic variants in the ATM gene (GRCh37, hg 19): c.5971G>T (Chr11:108183190)(p.Glu1991*) in exon 40 resulting in a truncation, and c.7638_7646delTAGAATTTC (Chr11:108202614)(p.Arg2547_Ser2549del) in exon 52 resulting in a deletion of 3 amino acids beginning at codon 2547.
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.5971G>T (p.Glu1991*) c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del)
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