NTCC® NA05509 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA05509

Name：NTCC® NA05509 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05509
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: 17 YR
Gender性别: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Remarks: Multiple skin cancers; acute sun sensitivity; nervous system involvement with progressive neurological degeneration; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice; the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice; XP12BE; < 2% of normal UV induced unscheduled DNA synthesis; see GM02250 (lymphoblast) and GM04429 (SV40 transformed fibroblast).
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: 555G>C G>T transversion in intron 3
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