NTCC® NA13961 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13961

Name：NTCC® NA13961 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13961
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: 29 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; diagnosed at age 2 yr; began using a wheelchair and wheelchair-dependent by age 15; eye telangiectasias since age 2 yr; frequent colds and pneumonia early in life; colorectal cancer at age 27; reduced IgA; affected brother died at age 3 yr; donor subject has an A>C change in intron 53 of the ATM gene (IVS53-2 A>C) resulting in the in frame skipping of exon 54 leading to a deletion of 53 codons beginning at codon 2544 (L2544del53); a second mutation was not reported
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: IVS53-2 A>C
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