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))


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)). Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Sahabian A, von Schlehdorn L, Drick N, Pink I, Dahlmann J, Haase A, Göhring G, Welte T, Martin U, Ringshausen FC, Olmer R
Journal Stem cell research
Publication Date 2020 Oct;48:101988
PubMed 32950024
DOI 10.1016/j.scr.2020.101988

Research Projects

Cell Lines