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Abstract <p>Schizophrenia, a complex mental disorder, has a significant genetic component involving rare mutations. In a trio screening by Rees et al. (Rees et al., 2020), the <i>SLC6A1</i> gene, responsible for GABA transport, was identified as a causative factor in schizophrenia. A patient from this study with a <i>de novo</i> mutation in this gene and his parents consented to donate skin cell samples to produce fibroblasts for iPS cell line derivation. Utilizing these cells as patient-derived models offers a valuable resource to investigate the link between GABA transport dysfunction and schizophrenia pathogenesis.</p>

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Generation of Human Induced Pluripotent Stem Cells (MHRCCGi001-A) from a Schizophrenia Patient with a de novo SLC6A1 Gene Mutation and from the Patient’s Parents (MHRCCGi004-A, MHRCCGi005-A)

  • 期刊论文

  • 发表日期：

    2025年2月1日

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  • V. A. Mikhailova,
  • A. A. Galiakberova,
  • A. C. Artyuhov,
  • E. B. Dashinimaev,
  • N. V. Kondratyev,
  • T. V. Lezheiko,
  • V. E. Golimbet

摘要

Abstract

Schizophrenia, a complex mental disorder, has a significant genetic component involving rare mutations. In a trio screening by Rees et al. (Rees et al., 2020), the SLC6A1 gene, responsible for GABA transport, was identified as a causative factor in schizophrenia. A patient from this study with a de novo mutation in this gene and his parents consented to donate skin cell samples to produce fibroblasts for iPS cell line derivation. Utilizing these cells as patient-derived models offers a valuable resource to investigate the link between GABA transport dysfunction and schizophrenia pathogenesis.