Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy

Zannino, Clara LU ; Esposito, Antonella ; Talarico, Mariagrazia ; Fortunato, Francesco ; Benedetto, Giorgia ; Sammarra, Ilaria ; Parrotta, Elvira Immacolata ; Gambardella, Antonio and Cuda, Giovanni (2026) In Stem Cell Research 92.
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.

Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Stem Cell Research
volume
92
article number
103953
publisher
Elsevier
external identifiers
  • scopus:105033931750
  • pmid:41794019
ISSN
1873-5061
DOI
10.1016/j.scr.2026.103953
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2026 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license. http://creativecommons.org/licenses/by-nc-nd/4.0/
id
5b9117d1-097c-412a-8139-0fc7c7eafef0
date added to LUP
2026-06-18 12:49:54
date last changed
2026-09-12 01:38:38
@article{5b9117d1-097c-412a-8139-0fc7c7eafef0,
  abstract     = {{<p>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.</p>}},
  author       = {{Zannino, Clara and Esposito, Antonella and Talarico, Mariagrazia and Fortunato, Francesco and Benedetto, Giorgia and Sammarra, Ilaria and Parrotta, Elvira Immacolata and Gambardella, Antonio and Cuda, Giovanni}},
  issn         = {{1873-5061}},
  language     = {{eng}},
  publisher    = {{Elsevier}},
  series       = {{Stem Cell Research}},
  title        = {{Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy}},
  url          = {{http://dx.doi.org/10.1016/j.scr.2026.103953}},
  doi          = {{10.1016/j.scr.2026.103953}},
  volume       = {{92}},
  year         = {{2026}},
}