Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene.

Drick, Nora; Dahlmann, Julia; Sahabian, Anais; Haase, Alexandra; Göhring, Gudrun; Lachmann, Nico; Ringshausen, Felix, Christian; Welte, Tobias; Martin, Ulrich; Olmer, Ruth, Maria

doi:10.1016/j.scr.2020.101848

Article / Chapter 2020 CC BY-NC-ND 4.0

published

Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene.

Drick, Nora; Dahlmann, Julia; Sahabian, Anais; Haase, Alexandra; Göhring, Gudrun; Lachmann, Nico; Ringshausen, Felix Christian ; Welte, Tobias ; Martin, Ulrich; Olmer, Ruth Maria

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.