Article
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 research - 1 Oct 2020
Sahabian Anais, von Schlehdorn Laura, Drick Nora, Pink Isabell, Dahlmann Julia, Haase Alexandra, Göhring Gudrun, Welte Tobias, Martin Ulrich, Ringshausen Felix C, Olmer Ruth
Abstract excerpt
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...
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