Recurrent chromosomal abnormalities in human embryonic stem cells


Cultured human embryonic stem (hES) cells have a known predisposition to aneuploidy of chromosomes 12, 17 and X. We studied 17 hES cell lines by array-based comparative genomic hybridization (aCGH) and found that the cells accumulate other recurrent chromosomal abnormalities, including amplification at 20q11.21 and a derivative chromosome 18. These genomic changes have a variable impact at the transcriptional level.

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Figure 1: Examples of the results obtained in this study.

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This work has been supported by grants from the Fund for Scientific Research Flanders (Fonds voor Wetenschappelijk Onderzoek (FWO) Vlaanderen) and by the STEM-HD (STREP EU FP6 program). C.S. is a postdoctoral fellow at the FWO Vlaanderen. M.G. is a PhD student at the FWO Vlaanderen. A.M. is a PhD student at the Instituut voor de aanmoediging van innovatie door Wetenschap en Technologie in Vlaanderen (IWT-Vlaanderen).

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C. Spits designed the study, performed part of the aCGH analysis and G-bandings and wrote the manuscript. I.M. was responsible for the culture of the hES cell lines and significantly contributed to the design of the study. M.G. maintained some of the hES cells lines in culture for >200 passages and performed several of the G-bandings. A.M. performed part of the aCGH analysis. C. Staessen supervised the interpretation of the G-banding and FISH results. Y.V. carried out all FISH experiments. J.V.d.E. is head of the IVF lab at the CRM and provided embryos donated by the patients for research. I.L. is head of the cytogenetics and molecular lab at the CMG. K.S. is the supervisor of C. Spits, I.M. and A.M. and contributed to the design of the study. The manuscript was proofread by all authors.

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Correspondence to Claudia Spits.

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Spits, C., Mateizel, I., Geens, M. et al. Recurrent chromosomal abnormalities in human embryonic stem cells. Nat Biotechnol 26, 1361–1363 (2008).

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