Science and Research

Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defects in motile cilia and is known to occur in about 1 in 20,000 live births (Horani and Ferkol, 2018). Among the many genes associated with PCD, NME5, a gene encoding a protein involved in ciliary function, was recently reported to be involved in PCD (Anderegg et al., 2019; Cho et al., 2020). We have established two human induced pluripotent stem cell clones from a PCD patient carrying a deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)).

  • Sahabian, A.
  • von Schlehdorn, L.
  • Drick, N.
  • Pink, I.
  • Dahlmann, J.
  • Haase, A.
  • Gohring, G.
  • Welte, T.
  • Martin, U.
  • Ringshausen, F. C.
  • Olmer, R.
Publication details
DOI: 10.1016/j.scr.2020.101988
Journal: Stem Cell Res
Pages: 101988 
Work Type: Original
Location: BREATH
Disease Area: CFBE, General Lung and Other
Partner / Member: MHH
Access-Number: 32950024
See publication on PubMed

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