Work

Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene

Year: 2025

Type: article

Abstract: Different SMC1A variants contribute to a spectrum of phenotypes. Missense or small in-frame deletions are associated with Cornelia de Lange syndrome (CdLS) while SMC1A truncation variants have been detected in subjects with a clinical phenotype different from CdLS, with moderate-to-severe intellectual disability (ID) and pharmaco-resistant epilepsy. We generated two human iPSC lines from two patients with pharmaco-resistant epilepsy carrying nonsense heterozygous c.901C > T (p.E323*) and c.3103C > T (p.R1035*) variants in the SMC1A gene. These cell lines will be a valuable resource for in vitro disease modeling and drug testing for pharmaco-resistant epilepsy due to SMC1A variants.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103752

Authors: Marianna Paulis, Maddalena Di Nardo, Lucia Susani, Angela La Grua, Antonio Musio

Institutions: Institute of Genetic and Biomedical Research, National Research Council, IRCCS Humanitas Research Hospital, University of Milan

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360