Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy
Year: 2026
Type: article
Abstract: The PRICKLE2 gene encodes a protein implicated in the non-canonical Wnt signalling pathway and in the regulation of planar cell polarity, although its precise biological functions remain incompletely understood. To date, only few PRICKLE2 mutations have been reported, and these have been associated with diverse clinical phenotypes, including autism spectrum disorders, epilepsy, and neurodevelopmental delay 1 . Here we report the generation of human induced pluripotent stem cell (hiPSCs) lines from two related individuals carrying a PRICKLE2 mutation and affected by an epileptic syndrome, through reprogramming their peripheral blood mononuclear cells (PBMCs). These hiPSC lines will enable further molecular and functional investigations.
Source: Stem Cell Research
Authors: Clara Zannino, Antonella Esposito, Mariagrazia Talarico, Francesco Fortunato, Giorgia Benedetto, Ilaria Sammarra, Elvira Immacolata Parrotta, Antonio Gambardella, Giovanni Cuda
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W7133324700