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

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.