Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))

Anais Sahabian; Laura von Schlehdorn; Nora Drick; Isabell Pink; Julia Dahlmann; Alexandra Haase; Gudrun Göhring; Tobias Welte; Ulrich Martin; Felix C Ringshausen; Ruth Olmer

doi:10.1016/j.scr.2020.101988

Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))

Stem Cell Res. 2020 Oct:48:101988. doi: 10.1016/j.scr.2020.101988. Epub 2020 Sep 7.

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; REBIRTH - Research Center for Translational Regenerative 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 Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Germany; Department of Respiratory Medicine, Hannover Medical School, 30625 Hannover, Germany.
³ Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
⁴ Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH - Research Center for Translational Regenerative 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. Electronic address: [email protected].
⁵ Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, 30625 Hannover, Germany; REBIRTH - Research Center for Translational Regenerative 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. Electronic address: [email protected].

PMID: 32950024
DOI: 10.1016/j.scr.2020.101988

Abstract

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)).

Publication types

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

MeSH terms

Cilia
Ciliary Motility Disorders* / genetics
Clone Cells
Homozygote
Humans
Induced Pluripotent Stem Cells*
Mutation
NM23 Nucleoside Diphosphate Kinases
Sequence Deletion

Substances

NM23 Nucleoside Diphosphate Kinases
NME5 protein, human