NTCC® NA02249 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02249

Name：NTCC® NA02249 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02249
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: 16 YR
Gender性别: Male
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Remarks: XP8BE; 46,XY; 10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts; similarly affected twin; see GM00671 (fibroblast); no neurological abnormalities; the donor subject carries two mutations in the XPC gene: one results in the insertion of a valine residue after valine at codon 580, while the other is a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein. The cell line is either homozygous or hemizygous for these mutations.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: XPC
Disease疾病类型:
Mutations突变: 3-BP INS, GGT, CODON 580 AND LYS822GLN
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