从一名原发性纤毛运动障碍患者中生成了两条人诱导多能干细胞系（MHHi016 - A、MHHi016 - B），该患者在CCNO基因第1外显子中携带一个纯合的5bp重复突变（c.248_252dup (p.Gly85Cysfs*11)）。
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene.
作者信息
Dahlmann Julia, Sahabian Anais, Drick Nora, Haase Alexandra, Göhring Gudrun, Lachmann Nico, Ringshausen Felix C, Welte Tobias, Martin Ulrich, Olmer Ruth
机构信息
Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH - Research Center for Translational 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), Germany.
Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, Germany.
出版信息
Stem Cell Res. 2020 Jul;46:101850. doi: 10.1016/j.scr.2020.101850. Epub 2020 May 18.
Cyclin O (CCNO) is involved in cell cycle regulation and mutations of CCNO are linked to the rare genetic disease primary ciliary dyskinesia (PCD). Mutations in CCNO are associated with reduced cilia number and cilia agenesis on epithelia of the respiratory tract. This article deals with the description of two hiPSC lines generated from a PCD patient carrying a mutation in exon 1 of the CCNO gene. The lines offer a valuable tool for in vitro modeling PCD pathophysiology.
细胞周期蛋白O（CCNO）参与细胞周期调控，CCNO的突变与罕见遗传病原发性纤毛运动障碍（PCD）有关。CCNO的突变与呼吸道上皮细胞纤毛数量减少和纤毛发育不全有关。本文描述了从一名携带CCNO基因第1外显子突变的PCD患者产生的两个诱导多能干细胞（hiPSC）系。这些细胞系为体外模拟PCD病理生理学提供了有价值的工具。
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