NTCC® NA18800 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA18800

Name：NTCC® NA18800 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA18800
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: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Czechoslovakian; clinically affected; donor subject is a compound heterozygote: one allele carries G-to-A substitution at nucleotide 1898+1 (1898+1G>A) in intron 12 of the CFTR gene which results an mRNA splicing defect; the second allele carries a 3 bp deletion in exon 10 resulting in the deletion of phenylalanine at codon 508 [Phe508Del (delta F508; F508del)]; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T
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: 1898+1 G>A 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