Article
Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family.
Stem cell research - 1 Apr 2022
Castelo Rueda Maria Paulina, Gilmozzi Valentina, Riekschnitz Diana A, Di Segni Marina, Silipigni Rosamaria, Pramstaller Peter P, Hicks Andrew A, Pichler Irene, Zanon Alessandra
Abstract excerpt
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...
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