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

Publication date: Available online 28 September 2018Source: Stem Cell ResearchAuthor(s): Ahmed Engi, Sansac Caroline, Fieldes Mathieu, Bergougnoux Anne, Bourguignon Chloé, Mianne Joffrey, Arnould Cécile, Vachier Isabelle, Assou Said, Bourdin Arnaud, De Vos JohnAbstractPrimary 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 TableUnique stem cell line identifierUHOMi001-AAlternative name(s) of stem cell lineiPCD02.30InstitutionInstitute for Regenerative Medicine & Biotherapy (IRMB), Montpellier, FRANCEContact information of distributorJohn De Vos Type of cell lineiPSCOriginhumanAdditional origin infoAge: 34Sex: FemaleCell SourceDermal fibroblastsClonalityClonalMethod of reprogramminghOCT4, hSOX2, hC-MYC, hKLF4 (CytoTune™-iPS 2.0 Sendai Reprogramming Kit - Invitrogen, Thermo Fisher Scientific Inc.)Genetic ModificationYESType of ModificationSpont...
Source: Stem Cell Research - Category: Stem Cells Source Type: research