Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy

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<sup>1</sup>. 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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Publication Details

Journal
Stem Cell Research
Published
2026-03-04
DOI
https://doi.org/10.1016/j.scr.2026.103953
Primary Topic
Microtubule and mitosis dynamics
Type
article
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article

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy

Antonella Esposito, Elvira Immacolata Parrotta, Clara Zannino, Mariagrazia Talarico et al.
Stem Cell Research
Microtubule and mitosis dynamics
article

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy

Antonella Esposito, Elvira Immacolata Parrotta, Clara Zannino, Mariagrazia Talarico, Giorgia Lucia Benedetto, Ilaria Sammarra, Giovanni Cuda, Antonio Gambardella, Francesco Fortunato
article en

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<sup>1</sup>. 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.

Stem Cell ResearchVol. 92
Lund University (SE), Magna Graecia University (IT), Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale" (IT)
Openalex Percentile: Top 37%
Microtubule and mitosis dynamics
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