Karyotype abnormalities in induced pluripotent stem cells derived from Russian donors

Background. Karyotyping of induced pluripotent stem cells (iPSCs) is a generally accepted stage of characterization of the genetic stability of cell lines, necessary for their registration and further scientific and medical use. Recurrent karyotype anomalies can be also detected by targeted methods (FISH, qPCR), however, the laboratory-specific peculiarities of cell handling protocols can influence the pattern of aberrations.
Aim. Identification of karyotype abnormalities in iPSC lines obtained from Russian donors and their comparison with recurrent aberrations known from literature data.
Methods. Karyotyping of iPSC cultures was carried out on passage 7-28, FISH with centromeric probes was used in specific cases to clarify the frequency of trisomy detected during karyotype analysis.
Results. We analyzed karyotypes of 34 iPSC lines obtained from 19 donors. Two lines with numerical chromosomal abnormalities (+8 and +20), three lines with large structural chromosomal rearrangements (duplication in 2q and two duplications in 1q) and one line with spontaneous non-clonal chromatid breaks were revealed. Additional FISH analysis with centromeric probes of a line with mosaic trisomy 8 and an autologous line with a normal karyotype revealed the presence of an abnormal clone in both lines. Thus, the frequency of karyotype abnormalities in the analyzed iPSC lines corresponds to the literature data. Chromosomal aberrations in two of the seven abnormal lines are not described as frequent recurrent genetic anomalies in iPSCs used for targeted methods for monitoring the genetic stability of cells.
Conclusions. Our study clarifies the frequency and structure of karyotype anomalies in iPSCs obtained from Russian donors and substantiates the rationality of combining genome-wide and targeted methods for assessing the genetic stability of these cells. The presented data can be used to develop recommendations for assessing the quality of iPSC.

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