NTCC® NA13328 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13328

Name：NTCC® NA13328 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13328
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: 32 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT13LA; onset of ataxia at age 6; required wheelchair at age 15; minimal bulbar telangiectasia at age 29; elevated serum AFP; culture shows increased radiosensitivity using a clonogenic survival assay; complementation group C; new NGS data revealed that donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.2098C>T (p.Gln700*) on the first allele, and c.5763-1050A>G (Intronic) on the second allele where a substitution in intron 40 results in an insertion in the cDNA of 137 bp at nucleotide 5763 leading to 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: c.2098C>T (p.Gln700*), c.5763-1050A>G (intronic)
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