NTCC® NA09587 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA09587

Name：NTCC® NA09587 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09587
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: 39 YR
Gender性别: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Similarly affected brother; onset at age 3; positive for telangiectasia; wheelchair at age 20; elevated alpha fetoprotein at age 39; no excess respiratory infections; compound heterozygote; the maternal allele carries a 4bp deletion at IVS59+1 which results in skipping of exon 59 leading to the deletion of 50 amino acids beginning at codon 2758 and the paternal allele carries a C>T mutation at nucleotide 9022 in exon 65 resulting in an amino acid change of R>C at codon 3008; in addition, the paternal allele carries a neutral sequence variation (735C>T) resulting in no change of the valine at codon 245
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: 9022C>T IVS59+1del4
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