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.
Highlights
The generation of human embryonic stem cells initiated a promising new area of scientific research [1]
We found that all Human pluripotent stem cell (hPSC) lines analyzed exhibit pervasive mosaic aneuploidy ranging from,18–35% of cells within the culture, indicating that this is a fundamental feature of normal hPSC lines
To address the possibility that hPSCs may exhibit chromosomal mosaicism, multiple hPSC lines were examined for mosaic aneuploidy using three distinct and independent techniques
Summary
The generation of human embryonic stem cells (hESCs) initiated a promising new area of scientific research [1]. An emerging theme in stem cell biology is that hPSCs are not homogeneous, instead showing phenotypic and functional heterogeneity within cultures. This heterogeneity can be seen in differences in marker expression, functionality and epigenetic patterns [10,11,12,13,14,15,16]. The notion of hPSCs as having binary fates – either totally pluripotent or totally differentiated has come into serious question. Rather, it appears that hPSCs exist on a continuum between pluripotent and differentiated states [10,11,12]
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