NTCC® NA04345 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA04345

Name：NTCC® NA04345 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04345
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: 25 YR
Gender性别: Male
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Classic CF with pancreatic insufficiency & diabetes mellitus; elevated sweat electrolytes; see GM04346 Fibroblast; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-A substitution at nucleotide 3978 (3978G>A) which converts the trp-1282 codon (TGG) to a stop codon (TGA), resulting in a nonsense mutation in exon 20 in the CFTR gene [TRP1282TER (W1282X)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CFTR
Disease疾病类型:
Mutations突变: PHE508DEL TRP1282TER
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