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|