NTCC® NA02345 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02345

Name：NTCC® NA02345 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02345
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: 8 YR
Gender性别: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Remarks: Japanese; XP20S; severe XP; mental retardation; gait disturbance; see GM04312 SV40 Transformed Fibroblast; < 2% of normal UV induced unscheduled DNA synthesis in fibroblasts; similarly affected sister is GM04314 (Fibroblast); donor subject is homozygous for the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene, abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms.
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: 3-PRIME SPLICE SITE, 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