NTCC® NA02250 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02250

Name：NTCC® NA02250 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02250
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: XP12BE; multiple skin cancers; acute sun sensitivity; progressive neurological degeneration; <2% of normal UV induced unscheduled DNA synthesis in fibroblasts; same patient as ATCC CRL 1223; see GM04429 (SV40 transformed fibroblast) and GM05509 (fibroblast); 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.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
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