Dynein axonemal heavy chain 5 (DNAH5) is part of a microtubule-associated protein complex found within the cilia of the lung. Mutations in the DNAH5 gene lead to impaired ciliary function and are linked to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder. We established two human induced pluripotent stem cell (hiPSC) lines generated from a patient with PCD and homozygous mutation in the corresponding DNAH5 gene. These cell lines represent an excellent tool for modeling the ciliary dysfunction in PCD.
- Drick, N.
- Dahlmann, J.
- Sahabian, A.
- Haase, A.
- Gohring, G.
- Lachmann, N.
- Ringshausen, F. C.
- Welte, T.
- Martin, U.
- Olmer, R.
