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Abstract <p>Developmental and epileptic encephalopathy-17 (DEE17) is a severe inherited neurological disorder caused by mutations in the <i>GNAO1</i> gene. The <i>GNAO1</i> gene encodes the alpha subunit of heterotrimeric G-protein complexes and is involved in signal transduction from G-protein coupled receptors in the brain. The precise pathogenesis of the disease remains unclear, and optimal treatment strategies depend on the specific mutation. Therefore, generating models for studying GNAO1 encephalopathy is highly relevant. In this work, using genetic reprogramming, we generated induced pluripotent stem cells (iPSCs) from dermal fibroblasts of a patient diagnosed with DEE17 caused by the <i>c.155A&gt;G</i> (<i>p.Q52R</i>) mutation in the <i>GNAO1</i> gene. The established iPSCs line (RCPCMi015-A) exhibits iPSCs morphology, a normal karyotype, and is free of bacterial contamination. RCPCMi015-A cells express pluripotency markers and are capable of differentiating into derivatives of the three germ layers. Thus, we have created a cell model for studying the molecular mechanisms of GNAO1 encephalopathy and for testing potential therapeutic approaches.</p>

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Generation of the RCPCMi015-A Induced Pluripotent Stem Cell Line by Reprogramming of Dermal Fibroblasts from a Patient with Developmental and Epileptic Encephalopathy-17 Carrying the GNAO1 c.155A>G (p.Q52R) Genetic Variant

  • 期刊论文

  • 发表日期：

    2025年12月1日

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  • E. A. Volovikov,
  • T. V. Limanskaya,
  • E. A. Zerkalenkova,
  • A. A. Abramov,
  • D. N. Silachev,
  • A. N. Bogomazova,
  • V. L. Katanaev,
  • M. A. Lagarkova

摘要

Abstract

Developmental and epileptic encephalopathy-17 (DEE17) is a severe inherited neurological disorder caused by mutations in the GNAO1 gene. The GNAO1 gene encodes the alpha subunit of heterotrimeric G-protein complexes and is involved in signal transduction from G-protein coupled receptors in the brain. The precise pathogenesis of the disease remains unclear, and optimal treatment strategies depend on the specific mutation. Therefore, generating models for studying GNAO1 encephalopathy is highly relevant. In this work, using genetic reprogramming, we generated induced pluripotent stem cells (iPSCs) from dermal fibroblasts of a patient diagnosed with DEE17 caused by the c.155A>G (p.Q52R) mutation in the GNAO1 gene. The established iPSCs line (RCPCMi015-A) exhibits iPSCs morphology, a normal karyotype, and is free of bacterial contamination. RCPCMi015-A cells express pluripotency markers and are capable of differentiating into derivatives of the three germ layers. Thus, we have created a cell model for studying the molecular mechanisms of GNAO1 encephalopathy and for testing potential therapeutic approaches.