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

Summary

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. Copyright © 2020. Published by Elsevier B.V.

Authors Dahlmann J, Sahabian A, Drick N, Haase A, Göhring G, Lachmann N, Ringshausen FC, Welte T, Martin U, Olmer R
Journal Stem cell research
Publication Date 2020 May 18;46:101850
PubMed 32464346
DOI 10.1016/j.scr.2020.101850

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