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

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

  • Stem Cell Res. 2025 Jun 16:87:103752. doi: 10.1016/j.scr.2025.103752.
Marianna Paulis 1,  Maddalena Di Nardo 2,  Lucia Susani 3,  Angela La Grua 4,  Antonio Musio 5
Affiliations

Affiliations

  • 1 IRCCS Humanitas Research Hospital, Rozzano 20089, Italy; UOS Milan Unit, Institute for Genetic and Biomedical Research, (IRGB), National Research Council (CNR), Milan 20138, Italy. Electronic address: marianna.paulis@irgb.cnr.it.
  • 2 Institute for Biomedical Technologies (ITB), National Research Council (CNR), Pisa 56124, Italy.
  • 3 IRCCS Humanitas Research Hospital, Rozzano 20089, Italy; UOS Milan Unit, Institute for Genetic and Biomedical Research, (IRGB), National Research Council (CNR), Milan 20138, Italy.
  • 4 IRCCS Humanitas Research Hospital, Rozzano 20089, Italy; Department of Medical Biotechnologies and Translational Medicine, University of Milan, Milan 20129, Italy.
  • 5 Institute for Biomedical Technologies (ITB), National Research Council (CNR), Pisa 56124, Italy. Electronic address: antonio.musio@itb.cnr.it.
PMID: 40541047 DOI: 10.1016/j.scr.2025.103752
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.

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