NTCC® NA13802 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13802

Name：NTCC® NA13802 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13802
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: 18 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; diagnosed at age 4 yr; telangiectasias since age 4 yr present on legs and conjunctiva; elevated serum AFP; reduced IgA; chromosomes show increased spontaneous breakage; wheelchair-dependent at age 10 yr; donor subject has a 2 bp deletion at nucleotide 2284 in exon 17 of the ATM gene (2284delCT) resulting in a frameshift at codon 762 and a truncation (L762fsX); 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: 2284delCT
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