Science and Research

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

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.

  • Dahlmann, J.
  • Sahabian, A.
  • Drick, N.
  • Haase, A.
  • Gohring, G.
  • Lachmann, N.
  • Ringshausen, F. C.
  • Welte, T.
  • Martin, U.
  • Olmer, R.
Publication details
DOI: 10.1016/j.scr.2020.101850
Journal: Stem Cell Res
Pages: 101850 
Work Type: Original
Location: BREATH
Disease Area: ROR
Partner / Member: MHH
Access-Number: 32464346
See publication on PubMed

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