NTCC® NA00897 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA00897

Name：NTCC® NA00897 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00897
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: 13 YR
Gender性别: Male
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Remarks: Mild; no pancreatic insufficiency; first diagnosed at age 4 months; a sib died of cystic fibrosis at age 10; see GM00768 Fibroblast; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a C-to-G substitution at nucleotide 1172 (1172C>G) which converts the arg-347 codon (CGC) to a pro (CCC), resulting in a missense mutation in exon 7 in the CFTR gene [Arg347Pro (R347P)]
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: ARG347PRO PHE508DEL
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