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

Julia Dahlmann; Anais Sahabian; Nora Drick; Alexandra Haase; Gudrun Göhring; Nico Lachmann; Felix C Ringshausen; Tobias Welte; Ulrich Martin; Ruth Olmer

doi:10.1016/j.scr.2020.101850

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

Stem Cell Res. 2020 Jul:46:101850. doi: 10.1016/j.scr.2020.101850. Epub 2020 May 18.

Authors

Affiliations

¹ 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.
² 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.
³ Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
⁴ REBIRTH - Research Center for Translational Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; RG Translational Hematology of Congenital Diseases, Institute of Experimental Hematology, Hannover Medical School, 30625 Hannover, Germany.
⁵ 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.

PMID: 32464346
DOI: 10.1016/j.scr.2020.101850

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cilia / genetics
Ciliary Motility Disorders* / genetics
Exons / genetics
Homozygote
Humans
Induced Pluripotent Stem Cells*
Mutation