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.