NTCC® NA13661 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13661

Name：NTCC® NA13661 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13661
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: 2 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT399AIV2 (3204); ataxia at age 1 1/2 years; diagnosed at age 2; elevated AFP; donor subject is a compound heterozygote: the maternal allele carries a C-to-T transition (CGA>TGA) at nucleotide 8977 (8977C>T) which converts the arg-2993 codon in exon 64 of the ATM gene to a nonsense codon [ARG2993TER (R2993X)]; the paternal allele contains a splicing mutation in exon 21.
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: ARG2993TER splicing mutation in exon21
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