Establishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors

Summary

Down syndrome (DS) is caused by trisomy 21 and is characterized by cognitive impairment, among other symptoms. Existing mouse models of DS do not fully recapitulate the genetic and phenotypic features of human trisomy 21. Here, we generated two induced pluripotent stem cell (iPSC) lines (ABCRIi003-A and ABCRIi004-A) from pediatric individuals with DS and two iPSC lines (ABCRIi002-A and ABCRIi005-A) from age-matched euploid donors. All generated lines displayed normal morphology, expressed key pluripotency markers, and demonstrated the ability to differentiate into the three germ layers. These iPSC lines provide a valuable cellular model for investigating neurodevelopment associated with DS. Copyright © 2026. Published by Elsevier B.V.

Authors Agostinho RR, Calado SM, Bragança JE, Nzwalo H, Marques VM, Bota M, Medeiros RM, Mendonça C, Martínez-Ruiz A, Simão S, Araújo IM
Journal Stem cell research
Publication Date 2026 Apr;92:103932
PubMed 41734703
DOI 10.1016/j.scr.2026.103932

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