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

从携带 CCNO 基因外显子 1 中纯合 5 bp 重复 (c.248_252dup (p.Gly85Cysfs*11)) 的原发性纤毛运动障碍患者中生成两个 hiPSC 系 (MHHi016-A、MHHi016-B)

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

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.

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