Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy
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