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

Key Points

These induced pluripotent stem cells demonstrate normal morphology and pluripotency marker expression, indicating their quality.
Cell lines derived from four individuals—two with Down syndrome and two age-matched euploid donors—showed the ability to differentiate into germ layers.
The analysis helps bridge the gap in current mouse models that fail to fully replicate human Down syndrome features.
These iPSC lines may enable future research into the neurodevelopmental aspects of Down syndrome, enhancing understanding of the condition.

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.

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

Key Points

Abstract

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