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.

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

doi:10.1016/j.scr.2020.101850

Article / Chapter 2020 CC BY-NC-ND 4.0

published

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.

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

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.