Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD) - Université de Montpellier Accéder directement au contenu
Article Dans Une Revue Stem Cell Research Année : 2018

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

Résumé

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.
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hal-01886353 , version 1 (25-04-2020)

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Paternité - Pas d'utilisation commerciale - Pas de modification

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Engi Ahmed, Caroline Sansac, Mathieu Fieldes, Anne Bergougnoux, Chloé Bourguignon, et al.. Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD). Stem Cell Research, 2018, ⟨10.1016/j.scr.2018.09.019⟩. ⟨hal-01886353⟩
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