Merkert Sylvia, Schubert Madline, Haase Alexandra, Janssens Hettie M, Scholte Bob, Lachmann Nico, Göhring Gudrun, Martin Ulrich
Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany.
Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH-Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), 30625 Hannover, Germany.
Stem Cell Res. 2020 Apr;44:101744. doi: 10.1016/j.scr.2020.101744. Epub 2020 Mar 25.
Cystic Fibrosis (CF) is a genetic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which encodes for a chloride ion channel regulating the balance of salt and water across secretory epithelia. Here we generated an iPSC line from a CF patient homozygous for the p.Asn1303Lys mutation, a Class II folding defect mutation. This iPSC line provides a useful resource for disease modeling and to investigate the pharmacological response to CFTR modulators in iPSC derived epithelia.
囊性纤维化（CF）是一种由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起的遗传性疾病，该基因编码一种氯离子通道，调节分泌上皮细胞中盐和水的平衡。在此，我们从一名患有p.Asn1303Lys突变（一种II类折叠缺陷突变）的纯合CF患者中生成了一条诱导多能干细胞（iPSC）系。这条iPSC系为疾病建模以及研究iPSC衍生上皮细胞对CFTR调节剂的药理反应提供了有用的资源。
