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Abstract <p>West syndrome, first described in 1841, belongs to a group of infantile epileptic encephalopathies. To date, several missense and nonsense mutations in various genes have been associated with this disorder, including the missense variant p.Arg87Cys in the <i>CYFIP2</i> gene. More than 50% of patients carrying this mutation are diagnosed with West syndrome, while approximately 25% present with other forms of epileptic encephalopathy. To facilitate the development of therapeutic approaches for West syndrome associated with the <i>CYFIP2</i> p.Arg87Cys variant, we established an induced pluripotent stem cell (iPSC) line, CYFIP-MV-9R, by reprogramming dermal fibroblasts obtained from a patient with this disorder. The pluripotency of the generated cells was confirmed based on morphological criteria, expression of pluripotency markers, and their ability to differentiate into derivatives of all three germ layers.</p>

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Generation of the iPSC Line CYFIP-MV-9R by Reprogramming Dermal Fibroblasts from a Patient with West Syndrome Caused by the CYFIP2 p.Arg87Cys Mutation

  • 期刊论文

  • 发表日期：

    2025年8月1日

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  • A. V. Surdina,
  • T. V. Limanskaya,
  • A. V. Fedorenko,
  • E. K. Sekretova,
  • E. A. Zerkalenkova,
  • M. E. Bogomiakova,
  • A. N. Bogomazova

摘要

Abstract

West syndrome, first described in 1841, belongs to a group of infantile epileptic encephalopathies. To date, several missense and nonsense mutations in various genes have been associated with this disorder, including the missense variant p.Arg87Cys in the CYFIP2 gene. More than 50% of patients carrying this mutation are diagnosed with West syndrome, while approximately 25% present with other forms of epileptic encephalopathy. To facilitate the development of therapeutic approaches for West syndrome associated with the CYFIP2 p.Arg87Cys variant, we established an induced pluripotent stem cell (iPSC) line, CYFIP-MV-9R, by reprogramming dermal fibroblasts obtained from a patient with this disorder. The pluripotency of the generated cells was confirmed based on morphological criteria, expression of pluripotency markers, and their ability to differentiate into derivatives of all three germ layers.