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))
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2020 Oct;48:101988 |
| PubMed | 32950024 |
| DOI | 10.1016/j.scr.2020.101988 |