Article
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 research - 1 Jul 2020
Dahlmann Julia, Sahabian Anais, Drick Nora, Haase Alexandra, Göhring Gudrun, Lachmann Nico, Ringshausen Felix C, Welte Tobias, Martin Ulrich, Olmer Ruth
Abstract excerpt
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...
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