NTCC® NA08436 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA08436

Name：NTCC® NA08436 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA08436
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: 5 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Ataxia; ocular telangiectasias; immune deficiency; submitter observed chromosome instability, including multiple rearrangements of chromosome #7 and/or #14 in 11% of PBL; PBL show increased chromo breakage after bleomycin; negative family history; see GM08391A Fibroblast; the paternal allele is a 4bp deletion at nucleotide 4642 (4642delGATA) resulting in a frameshift and a truncation at codon 1548 [Asp1548ter (D1548fsX)]; the maternal allele is a substitution (G>T) at nucleotide 5932 leading to the skipping of exon 42 and a truncation at codon 1978 (E1978X)
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: 4642del4 5932G>T
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