NTCC® NA14471 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14471

Name：NTCC® NA14471 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA14471
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: 29 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; eye telangiectasias with onset at 10 yr; began using a wheelchair and was wheelchair-dependent at age 10 yr; at age 28 yr bone marrow and bone biopsies revealed preleukemic condition; prone to infections; affected brother is GM14472; donor subject is a compound heterozygote: one allele has an A>C change in intron 53 of the ATM gene (IVS53-2 A>C) resulting in the in-frame skipping of exon 54 leading to a deletion of 53 codons beginning at codon 2544 (L2544del53); the second allele has a G>A change in intron 62 (IVS62+1 G>A) resulting in the skipping of exon 62, a frameshift at codon 2891 and a truncation (G2891fsX)
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: IVS53-2 A>C IVS62+1G>A
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