NTCC® NA02009 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02009

Name：NTCC® NA02009 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02009
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: 10 YR
Gender性别: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Remarks: XP1PD; mental and growth retardation; photosensitivity; similarly affected sib; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 of exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; the second allele carries a G-to-T transversion at nucleotide 323 of exon 3 altering the Cys-108 codon (TGT) to a phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein [Cys108Phe (C108F)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: XPA
Disease疾病类型:
Mutations突变: 5BP DEL CYS108PHE
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