NTCC® NA13805 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13805

Name：NTCC® NA13805 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13805
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: 3 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT394AIV1; Ataxia at age 1 1/2 years; diagnosed at one year of age; elevated AFP; new NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): the maternal allele of the ATM gene carries a T-to C transition at nucleotide 1229 which converts the val-410 codon to an ala codon [Val410Ala (V410A)], resulting in a missense mutation in exon 11; a second allele carries a 20 bp deletion and a 2 bp insertion at nucleotide 6736 (6736del20 ins2) which results in protein truncation.
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: 6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) c.935_936insAlu (p.Leu312fs)
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