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

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.

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Publication Details

Journal
Stem Cell Research
Published
2026-02-14
DOI
https://doi.org/10.1016/j.scr.2026.103932
Primary Topic
Down syndrome and intellectual disability research
Type
article
Field-Weighted Citation Impact
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Establishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors

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

Monica Cristina Nagy Bota, Sónia Simão, José Bragança, Antonio Martínez-Ruiz, Rafaela Agostinho, Sofia M. Calado, Carla Mendonça, Raquel Melo Medeiros, Vera Mascarenhas Marques, Inês M. Araújo
article en

Abstract

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.

Stem Cell ResearchVol. 92
Universidade dos Açores (PT), Hospital Universitario Santa Cristina (ES), Algarve Biomedical Center (PT), Hospital Universitario de La Princesa (ES), University of Algarve (PT)
Openalex Percentile: Top 58%
Down syndrome and intellectual disability research
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