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
Summary
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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Drick N, Dahlmann J, Sahabian A, Haase A, Göhring G, Lachmann N, Ringshausen FC, Welte T, Martin U, Olmer R |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101848 |
| PubMed | 32470793 |
| DOI | 10.1016/j.scr.2020.101848 |