Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)


Primary Ciliary Dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting motile cilia structure and function leading to lung disease. We generated induced pluripotent stem cells (iPSCs) from dermal fibroblasts of a female PCD patient carrying disease-causing variants in the CCDC40 gene. Reprogramming was performed with the human OSKM transcription factors using the Sendai-virus delivery system. The resulting transgene free iPSCs had normal karyotype, expressed pluripotency markers, could differentiate into the three germ layers in vivo and retained the disease-causing CCDC40 mutations. This iPSC line could be useful to model PCD disease and test gene therapy strategies. Resource Table. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ahmed E, Sansac C, Fieldes M, Bergougnoux A, Bourguignon C, Mianné J, Arnould C, Vachier I, Assou S, Bourdin A, De Vos J
Journal Stem cell research
Publication Date 2018 Dec;33:15-19
PubMed 30296669
DOI 10.1016/j.scr.2018.09.019

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