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 delay1. 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.

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy

Clara Zannino;Antonella Esposito;Mariagrazia Talarico
;
Francesco Fortunato;Giorgia Benedetto;Ilaria Sammarra;Elvira Immacolata Parrotta;Antonio Gambardella;Giovanni Cuda
2026-01-01

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 delay1. 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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12317/120171
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