NTCC® NA13909 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13909

Name：NTCC® NA13909 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13909
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: 20 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, hands, ankles, and feet; began using a wheelchair at age 8 yr; wheelchair-dependent at age 9 yr; elevated serum AFP; chromosome studies show increase spontaneous breakage; normal IgA, IgG, and IgM; reduced IgE; sister of GM13910; donor subject has a G>T change at nucleotide 5932 in exon 42 of the ATM gene (5932G>T) resulting in the skipping of exon 42 and a truncation [Arg1973Ter (R1973X)]; 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: 5932G>T
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