Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:15-19 |
| PubMed | 30296669 |
| DOI | 10.1016/j.scr.2018.09.019 |