NTCC® NA11255 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11255

Name：NTCC® NA11255 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11255
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: 21 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT14LA; diagnosed at age 6; negative family history; severe spasticity of hands and feet; telangiectasias over eyes and ears; elevated serum AFP; 46,XX,inv (14)(q12;q32) with telomeric fusions in PBL; donor subject is a compound heterozygote: one mutation is a 1 bp insertion at nucleotide 6015 resulting in a frameshift and truncation at codon 2005; a second mutation is 8565TG>AA
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: 6015insC 8565TG>AA
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