NTCC® NA01389 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01389

Name：NTCC® NA01389 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01389
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: 21 YR
Gender性别: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | DNA DAMAGE-BINDING PROTEIN 2; DDB2
Remarks: Diagnosed at age 16 years; complementation analysis in heterodikaryons negative when crossed with XPE (XP23PV); unscheduled DNA synthesis 60% of normal level; GM01646 is a lymphoblastoid cell line from the same individual; at the age of 53 has now reported more than 600 BCCs, SCCs and 12 melanomas by the age of 50; donor subject is a compound heterozygote: one allele carries a T>C transition at nucleotide 1224 (1224T>C) of the DDB2 gene, resulting in a missense mutation at codon 350 [Leu350Pro (L350P)]; the second allele carries a 3 bp deletion (del 1220-1222) resulting in the deletion of ASN349 (N349del).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: DDB2
Disease疾病类型:
Mutations突变: ASN349del LEU350PRO
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