Scholarlink

Abstract <p>Neurodevelopmental disorders, particularly autism spectrum disorder (ASD) and intellectual disability (ID), comprise a heterogeneous group characterized by a range of clinical phenotypes that are influenced by both genetic and environmental factors. ASD is notable for its diverse behavioral manifestations and varying cognitive profiles, which complicate the processes of diagnosis and intervention. In this study, we reprogrammed blood mononuclear cells from a patient with ASD, ID and multiple structural variations into induced pluripotent stem cells (iPSCs) using episomal vector transfection technology. The resulting iPSC line, designated ICGi058-A, demonstrated robust proliferation as compact colonies of cells with large nuclei and maintained karyotype 46,XY,inv(2)(p21q23);t(3;7)(p13;q11.2). Characterization of these iPSCs revealed the expression of key pluripotency markers, including OCT4, SOX2, NANOG and TRA-1-60. Moreover, the functional pluripotency of ICGi058-A was confirmed through the formation of embryoid bodies and successful differentiation into the three germ layers: ectoderm, mesoderm, and endoderm. Comprehensive genetic analysis (STR) showed that the derived iPSC line is identical to the original cell material obtained from the patient.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Induced Pluripotent Stem Cell Line ICGi058-A Derived from Blood Mononuclear Cells of a Patient with Autism Spectrum Disorders and Multiple Chromosomal Rearrangements

  • 期刊论文

  • 发表日期：

    2025年6月1日

查看全文
  • A. A. Khabarova,
  • A. P. Yan,
  • Y. M. Minina

摘要

Abstract

Neurodevelopmental disorders, particularly autism spectrum disorder (ASD) and intellectual disability (ID), comprise a heterogeneous group characterized by a range of clinical phenotypes that are influenced by both genetic and environmental factors. ASD is notable for its diverse behavioral manifestations and varying cognitive profiles, which complicate the processes of diagnosis and intervention. In this study, we reprogrammed blood mononuclear cells from a patient with ASD, ID and multiple structural variations into induced pluripotent stem cells (iPSCs) using episomal vector transfection technology. The resulting iPSC line, designated ICGi058-A, demonstrated robust proliferation as compact colonies of cells with large nuclei and maintained karyotype 46,XY,inv(2)(p21q23);t(3;7)(p13;q11.2). Characterization of these iPSCs revealed the expression of key pluripotency markers, including OCT4, SOX2, NANOG and TRA-1-60. Moreover, the functional pluripotency of ICGi058-A was confirmed through the formation of embryoid bodies and successful differentiation into the three germ layers: ectoderm, mesoderm, and endoderm. Comprehensive genetic analysis (STR) showed that the derived iPSC line is identical to the original cell material obtained from the patient.