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Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy
Clara Zannino1, Antonella Esposito2, Mariagrazia Talarico3
1Developmental and Regenerative Neurobiology, Wallenberg Neuroscience Center and Lund Stem Cell Center, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Stem Cell Research
|March 7, 2026
Summary
Researchers generated human induced pluripotent stem cell (hiPSC) lines from individuals with a PRICKLE2 mutation causing an epileptic syndrome. These hiPSC models will aid in studying the gene
Area of Science:
- Genetics
- Neuroscience
- Stem Cell Biology
Background:
- The PRICKLE2 gene is involved in the Wnt signaling pathway and planar cell polarity.
- PRICKLE2 mutations are linked to neurodevelopmental disorders like autism, epilepsy, and developmental delay.
- The exact biological roles of PRICKLE2 remain unclear.
Purpose of the Study:
- To create human induced pluripotent stem cell (hiPSC) lines from patients with a PRICKLE2 mutation and epilepsy.
- To establish a cellular model for investigating the molecular and functional consequences of PRICKLE2 mutations.
Main Methods:
- Reprogramming of peripheral blood mononuclear cells (PBMCs) from two related individuals with a PRICKLE2 mutation.
- Generation of patient-derived hiPSC lines.
Main Results:
- Successfully generated hiPSC lines from individuals with a PRICKLE2 mutation associated with an epileptic syndrome.
- Established patient-specific hiPSC models for future research.
Conclusions:
- The developed hiPSC lines provide a valuable resource for studying PRICKLE2 gene function in the context of epilepsy.
- These models will facilitate further molecular and functional investigations into PRICKLE2-related disorders.
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