NTCC® NA13879 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13879

Name：NTCC® NA13879 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13879
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: 25 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; diagnosed at age 7 yr; telangiectasias since age 6 yr present on elbows, neck, and eyes; began using wheelchair at age 6 yr; wheelchair-dependent at age 18 yr; recurrent infections; reduced IgA and IgG; elev IgM; chromosomes show increased spontaneous breakage; donor subject is homozygous for a 4 bp deletion in intron 59 of the ATM gene (IVS59+1del4) resulting in the in-frame skipping of exon 59 leading to the deletion of 50 codons at codon 2758 (D2758del50)
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: IVS59+1del4
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