Generation of human trisomy 21 (47, XX/XY, +21) induced pluripotent stem cells

doi:10.3877/cma.j.issn.2095-1221.2026.01.003

Abstract

Abstract:

Objective

To establish an induced pluripotent stem cells (iPSCs) model derived from peripheral blood mononuclear cells (PBMCs) of Down syndrom (DS) patients, providing a new research tool for studying DS and its associated neurological disorders.

Methods

The PBMCs of two children with DS were reprogrammed into iPSCs by using the electric reprogramming technology. The obtained iPSCs were systematically characterized by morphological observation, karyotype analysis, flow cytometry, immunofluorescence staining, and three-germ-layer differentiation experiments. Flow cytometry data are expressed as the percentage of positive cells.

Results

Two iPSCs lines, DS1-iPSCs and DS2-iPSCs, with typical morphology were successfully obtained. Karyotype analysis revealed a karyotype of 47,XX or XY,+21, confirming that both patients had Trisomy 21. Flow cytometry and immunofluorescence results showed that the iPSCs expressed pluripotency markers SSEA4, TRA-1-60, OCT4, and SOX2. Three-germ-layer differentiation experiments confirmed that the iPSCs could differentiate into endoderm (AFP, SOX17) , mesoderm (α-SMA, BRACHYURY) , and ectoderm (Tuj1, PAX6) cells, demonstrating their pluripotency.

Conclusion

This study successfully established iPSCs model derived from the peripheral blood of two DS children, which possess trisomy 21 karyotype, expression of pluripotency markers and the ability to differentiate from the three germ layers, offering a new cell model and research tool for investigating DS and its associated neurological disorders.

Key words: Down syndrome, Peripheral blood mononuclear cells, Induced pluripotent stem cells, Reprogramming

Chengwei Wang, Juanjuan Li, Wenjie Hu, Zhifan Chen, Yin Xu. Generation of human trisomy 21 (47, XX/XY, +21) induced pluripotent stem cells[J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2026, 16(01): 23-30.

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URL: https://zhxbygxbzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-1221.2026.01.003

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Figures/Tables 5

References 24

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