NTCC® NA01712 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01712

Name：NTCC® NA01712 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01712
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: Male
Description描述: COCKAYNE SYNDROME, TYPE B; CSB | EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
Remarks: Clinically affected; subject alternate ID is CS2BE or CS5HO; fibroblasts are assigned to complementation group B; UV irradiation sensitive; pigmentary retinopathy symptoms; gait defect; normal DNA ligase I and II activity; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 3614 in exon 18 of the ERCC6 gene (3614delT) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200); the second allele has a deletion of exon 10 (del665_723); HLA type Aw32,A10,Bw15,B14,(A3); see GM01098 Fibroblast;
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ERCC6
Disease疾病类型:
Mutations突变: 3614delT DEL EX10
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