NTCC® NA21849 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21849

Name：NTCC® NA21849 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21849
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: 15 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; ataxia first observed at age 12 years; telangiectasias of the eyes observed at age 11 years; spontaneous chromosome breakage; elevated serum alpha fetoprotein; no family history of cancer; donor subject has one allele with a 3 bp deletion and 4 bp insertion at nucleotide 3245 in exon 24 of the ATM gene (3245ATC>TGAT) resulting in a shift in the open reading frame and introducing a premature stop codon several amino acids downstream at codon 1095 [His1082Ter(H1082X)]; the mutation on the other allele is as yet unidentified
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: 3245ATC>TGAT
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