NTCC® NA13907 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13907

Name：NTCC® NA13907 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13907
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: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, arms, and legs since age 2 yr; wheelchair-dependent since age 8 yr; chromosome studies showed increased spontaneous breakage; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 2250 of the ATM gene (2250G>A) resulting in the in-frame skipping of exon 16 leading to a 42 codon deletion beginning at codon 709 (I709del42); the second allele has an A>G change in intron 49 (IVS49-2A>G) resulting in the in-frame skipping of exon 50 leading to a 38 codon deletion beginning at codon 2315 (M2315del38)
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: 2250G>A IVS49-2 A>G
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