Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients - Machuca, Candela; Correa-Vela, Marta; García-Navas, Deyanira; Darling, Alejandra; Villalón-García, Irene; Sánchez-Alcázar, José Antonio; Pérez-Dueñas, Belén; Erceg, Slaven; Espinós, Carmen (Stem cell research, 2021)
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.
Keywords: mutace; Neuroaxonal Dystrophies; Group VI Phospholipases A2; Cell Line; přeprogramování buněk; fosfolipasy A2, skupina VI; lidé; buněčná diferenciace; Cell Differentiation; buněčné linie; indukované pluripotentní kmenové buňky; Induced Pluripotent Stem Cells; Mutation; Cellular Reprogramming; neuroaxonální dystrofie; Humans