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

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

doi:10.1016/j.scr.2020.101848

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

Stem Cell Res. 2020 Jul:46:101848. doi: 10.1016/j.scr.2020.101848. Epub 2020 May 20.

Authors

Affiliations

¹ Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany.
² Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; REBIRTH - Research Center for Translational Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany.
³ Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
⁴ REBIRTH - Research Center for Translational Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany; RG Translational Hematology of Congenital Diseases, Institute of Experimental Hematology, Hannover Medical School, 30625 Hannover, Germany.
⁵ Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany.

PMID: 32470793
DOI: 10.1016/j.scr.2020.101848

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Axonemal Dyneins / genetics
Homozygote
Humans
Induced Pluripotent Stem Cells*
Kartagener Syndrome* / genetics
Mutation

Substances

Axonemal Dyneins
DNAH5 protein, human