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  • Generation of an induced pl...
    Gilmozzi, Valentina; Gentile, Giovanna; Riekschnitz, Diana A.; Volpato, Claudia B.; Di Segni, Marina; Silipigni, Rosamaria; Pramstaller, Peter P.; Hicks, Andrew A.; Pichler, Irene; Zanon, Alessandra

    Stem cell research, April 2022, 2022-04-00, 20220401, 2022-04-01, Letnik: 60
    Journal Article

    The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson’s disease (PD). We describe the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a pathogenic Ala53Thr missense mutation in the SNCA gene. Human dermal fibroblasts were reprogrammed using a non-integrating episomal method. The generated iPSC line (EURACi014-A; iPS-1.1) shows expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. Hence, this line represents a valuable resource for the study and modeling of the processes directly controlled by aSyn.