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.Gly85Cysfs11)) in exon 1 of the CCNO gene

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 descrip...

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Veröffentlicht in:Stem cell research 2020-07, Vol.46, p.101850-101850, Article 101850
Hauptverfasser: Dahlmann, Julia, Sahabian, Anais, Drick, Nora, Haase, Alexandra, Göhring, Gudrun, Lachmann, Nico, Ringshausen, Felix C., Welte, Tobias, Martin, Ulrich, Olmer, Ruth
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Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.101850