Generation of two induced pluripotent stem cell lines from patients with Down syndrome

Stem Cell Res. 2023 Oct:72:103204. doi: 10.1016/j.scr.2023.103204. Epub 2023 Sep 14.


Down syndrome (DS) is caused by trisomy of Homo sapiens chromosome 21 (HSA21) and is by far the most common chromosomal disorder accompanied by neurodevelopmental disorders and congenital heart disease. Here, we generated two induced pluripotent stem cell (iPSC) lines from two patients with DS. These two lines exhibited normal morphology, trisomy 21 karyotype, pluripotency and differentiation capability into derivatives of three germ layers. The patient-specific iPSC lines arean invaluable resource in research to model DS-related cellular and molecular pathologies and test possible therapeutic strategies for DS.

Keywords: Down syndrome (DS); Homo sapiens chromosome 21 (HSA21); Human induced pluripotent stem cells (hiPSCs); Trisomy 21 (T21).

MeSH terms

  • Cell Differentiation / genetics
  • Down Syndrome* / genetics
  • Down Syndrome* / metabolism
  • Down Syndrome* / pathology
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Trisomy / pathology