Cystic fibrosis(CF)is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator(CFTR)gene.According to the CF mutation database(http://www.genet.sickkids.on.ca/),among t...Cystic fibrosis(CF)is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator(CFTR)gene.According to the CF mutation database(http://www.genet.sickkids.on.ca/),among the 2120 known mutations in the CFTR gene,only hundreds have been identified in South and East Asian populations;therefore,the prevalence is 10–200 times lower than Caucasians.1 In this study,we identified a homozygous 1540del10 mutation,also referred to as p.Val470GlufsX54,c.1409_1418del,in the CFTR gene of a 13-year-old Japanese male who had been diagnosed as CF by the abnormal elevation of chloride ion concentration in exocrine.This frameshift mutation is harbored in the first nucleotide-binding domain.2 We established induced pluripotent stem(iPS)cell lines using the deposited CF patient-derived primary skin fibroblasts(RBC1382).展开更多
基金supported by a grant from JSPS KAKENHI(No.24K11354).
文摘Cystic fibrosis(CF)is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator(CFTR)gene.According to the CF mutation database(http://www.genet.sickkids.on.ca/),among the 2120 known mutations in the CFTR gene,only hundreds have been identified in South and East Asian populations;therefore,the prevalence is 10–200 times lower than Caucasians.1 In this study,we identified a homozygous 1540del10 mutation,also referred to as p.Val470GlufsX54,c.1409_1418del,in the CFTR gene of a 13-year-old Japanese male who had been diagnosed as CF by the abnormal elevation of chloride ion concentration in exocrine.This frameshift mutation is harbored in the first nucleotide-binding domain.2 We established induced pluripotent stem(iPS)cell lines using the deposited CF patient-derived primary skin fibroblasts(RBC1382).
