title: Normal human pluripotent stem cell lines exhibit pervasive mosaic aneuploidy.
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.
authors.affiliation: Department of Molecular Biology, Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, California, United States of America.
authors.forename: Suzanne E
authors.initials: SE
authors.lastname: Peterson
authors.forename: Jurjen W
authors.initials: JW
authors.lastname: Westra
authors.forename: Stevens K
authors.initials: SK
authors.lastname: Rehen
authors.forename: Holly
authors.initials: H
authors.lastname: Young
authors.forename: Diane M
authors.initials: DM
authors.lastname: Bushman
authors.forename: Christine M
authors.initials: CM
authors.lastname: Paczkowski
authors.forename: Yun C
authors.initials: YC
authors.lastname: Yung
authors.forename: Candace L
authors.initials: CL
authors.lastname: Lynch
authors.forename: Ha T
authors.initials: HT
authors.lastname: Tran
authors.forename: Kyle S
authors.initials: KS
authors.lastname: Nickey
authors.forename: Yu-Chieh
authors.initials: YC
authors.lastname: Wang
authors.forename: Louise C
authors.initials: LC
authors.lastname: Laurent
authors.forename: Jeanne F
authors.initials: JF
authors.lastname: Loring
authors.forename: Melissa K
authors.initials: MK
authors.lastname: Carpenter
authors.forename: Jerold
authors.initials: J
authors.lastname: Chun
mesh_terms: D000782:Aneuploidy; D000818:Animals; D018929:Cell Culture Techniques; D002460:Cell Line; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D051379:Mice; D039904:Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism*; D032681:Spectral Karyotyping