NUK - logo
E-viri
Recenzirano Odprti dostop
  • Generation and characteriza...
    Castelo Rueda, Maria Paulina; Gilmozzi, Valentina; Riekschnitz, Diana A.; 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

    Mutations in the Parkin (PRKN) gene are the most frequent known cause of autosomal recessive early-onset Parkinson’s disease (PD). Heterozygous mutations might predispose to disease with a highly reduced penetrance. We generated iPSC lines from two individuals carrying a heterozygous deletion of exon 7 in the PRKN gene and two controls from the same family. PBMCs were reprogrammed using non-integrating episomal plasmids. The iPSC lines exhibit expression of pluripotency markers, the potential to differentiate into the three germ layers, and a stable karyotype. These lines will serve to study mechanisms of reduced penetrance in heterozygous PRKN mutation carriers.