NTCC® NA00436 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00436

Name：NTCC® NA00436 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00436
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: 22 YR
Gender性别: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
Remarks: XP1NE; near normal post UV unscheduled DNA synthesis; no neoplasias; donor subject is a compound heterozygote for several mutations in the ERCC2 gene: one allele carries a G-to-A substitution at nucleotide 217 (217G>A) which results in a change of Gly-47 to Arg [GLY47ARG (G47R)]; a second allele carries a C-to-G transversion at nucleotide position 1411 (1411C>G) which results in a change of Leu-461 to Val [Leu461Val (L461V), as well as a splicing mutation resulting in the deletion of 45 bases (2224_2268) in the cDNA and the loss of amino acids 716_730 from the protein (DEL 716_730).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ERCC2
Disease疾病类型:
Mutations突变: 45 bp deletion (c.2224-2268) GLY47ARG LEU461VAL
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