Normal human pluripotent stem cell lines exhibit pervasive mosaic aneuploidy

Suzanne E. Peterson, Jurjen W. Westra, Stevens K. Rehen, Holly Young, Diane M. Bushman, Christine M. Paczkowski, Yun C. Yung, Candace L. Lynch, Ha T. Tran, Kyle S. Nickey, Yu Chieh Wang, Louise C. Laurent, Jeanne F. Loring, Melissa K. Carpenter, Jerold Chun

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Abstract

Human pluripotent stem cell (hPSC) lines have been considered to be homogeneously euploid. Here we report that normal hPSC - including induced pluripotent - lines are karyotypic mosaics of euploid cells intermixed with many cells showing non-clonal aneuploidies as identified by chromosome counting, spectral karyotyping (SKY) and fluorescent in situ hybridization (FISH) of interphase/non-mitotic cells. This mosaic aneuploidy resembles that observed in progenitor cells of the developing brain and preimplantation embryos, suggesting that it is a normal, rather than pathological, feature of stem cell lines. The karyotypic heterogeneity generated by mosaic aneuploidy may contribute to the reported functional and phenotypic heterogeneity of hPSCs lines, as well as their therapeutic efficacy and safety following transplantation.

Original languageEnglish
Article numbere23018
JournalPLoS ONE
Volume6
Issue number8
DOIs
StatePublished - 2011

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    Peterson, S. E., Westra, J. W., Rehen, S. K., Young, H., Bushman, D. M., Paczkowski, C. M., Yung, Y. C., Lynch, C. L., Tran, H. T., Nickey, K. S., Wang, Y. C., Laurent, L. C., Loring, J. F., Carpenter, M. K., & Chun, J. (2011). Normal human pluripotent stem cell lines exhibit pervasive mosaic aneuploidy. PLoS ONE, 6(8), [e23018]. https://doi.org/10.1371/journal.pone.0023018