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|