Article
Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene.
Stem cell research - 1 Jul 2020
Drick Nora, Dahlmann Julia, Sahabian Anais, Haase Alexandra, Göhring Gudrun, Lachmann Nico, Ringshausen Felix C, Welte Tobias, Martin Ulrich, Olmer Ruth
Abstract excerpt
Dynein axonemal heavy chain 5 (DNAH5) is part of a microtubule-associated protein complex found within the cilia of the lung. Mutations in the DNAH5 gene lead to impaired ciliary function and are linked to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder. We established two human induced pluripotent stem cell (hiPSC) lines generated from a patient with PCD and homozygous mutation in the...
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