NTCC® NA03542 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03542

Name：NTCC® NA03542 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03542
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: 29 YR
Gender性别: Male
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4
Remarks: Japanese; XP3YO; 10% of normal post UV unscheduled DNA synthesis; no neurological abnormalities; son of a niece of XP2YO; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1436 of the ERCC4 gene (1436G>A) resulting in the substitution of glutamine for arginine at codon 479 [Arg479Gln (R479Q)] and the second allele has a T>C transition at nucleotide 1790 (1790T>C) resulting in the substitution of proline for leucine at codon 599 [Leu599Pro (L599P)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ERCC4
Disease疾病类型:
Mutations突变: ARG479GLN LEU599PRO
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