Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy

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Authors: Clara Zannino, Antonella Esposito, Mariagrazia Talarico, Francesco Fortunato, Giorgia Lucia Benedetto, Ilaria Sammarra, Elvira Immacolata Parrotta, Antonio Gambardella, Giovanni Cuda
Cited by: 0
References: 5

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.

Fields of Study & Subjects

Pluripotent Stem Cells Research Epilepsy research and treatment Neurogenesis and neuroplasticity mechanisms

Publication details

Journal / source
Stem Cell Research
Volume
92
Pages
103953–103953
Publication date
4 March 2026
Language
EN