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Updated: Jun 26, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
Generation of integration-free induced pluripotent stem cell line (KSCBi024-A) from patients with down syndrome
Young Sam Im1, Yong-Ou Kim1, Sun-Jung Cho1
1Division of Intractable Diseases Research, Korea National Institute of Health, Osong, Cheongju-si, South Korea.
Abstract:
We established an integration-free human induced pluripotent stem cell (hiPSC) line, KSCBi024-A, from peripheral blood mononuclear cells (PBMCs) of a 13-year-old male with Down syndrome (trisomy 21). Cytogenetic analysis confirmed a 46,XY,i(21)(q10) karyotype, indicating an isochromosome 21q. Reprogramming was carried out using non-integrating episomal vectors, and the resulting hiPSCs exhibited typical pluripotent stem cell morphology and expressed core pluripotency markers (OCT4, NANOG, SOX2) at levels comparable to human embryonic stem cells. The line demonstrated trilineage differentiation potential in vitro and was free of mycoplasma contamination. KSCBi024-A represents a useful resource for modeling trisomy 21-associated cellular phenotypes and is available through the Korea National Stem Cell Bank.
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