Stem Cell Research (Jul 2020)

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

  • Nora Drick,
  • Julia Dahlmann,
  • Anais Sahabian,
  • Alexandra Haase,
  • Gudrun Göhring,
  • Nico Lachmann,
  • Felix C. Ringshausen,
  • Tobias Welte,
  • Ulrich Martin,
  • Ruth Olmer

Journal volume & issue
Vol. 46
p. 101848

Abstract

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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 corresponding DNAH5 gene. These cell lines represent an excellent tool for modeling the ciliary dysfunction in PCD.