Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

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

Accession codes


Gene Expression Omnibus


  1. Baker, D.E. et al. Nat. Biotechnol. 25, 207–215 (2007).

    Article  CAS  Google Scholar 

  2. Josephson, R. Expert Rev. Mol. Diagn. 7, 395–406 (2007).

    Article  CAS  Google Scholar 

  3. Inzunza, J. et al. Mol. Hum. Reprod. 10, 461–466 (2004).

    Article  CAS  Google Scholar 

  4. Maitra, A. et al. Nat. Genet. 37, 1099–1103 (2005).

    Article  CAS  Google Scholar 

  5. Mateizel, I. et al. Hum. Reprod. 21, 503–511 (2006).

    Article  CAS  Google Scholar 

  6. Wu, H. et al. Stem Cells 26, 1484–1489 (2008).

    Article  CAS  Google Scholar 

  7. Scotto, L. et al. Genes Chromosom. Cancer 47, 755–765 (2008).

    Article  CAS  Google Scholar 

  8. Guled, M. et al. Mod. Pathol. 21, 770–778 (2008).

    Article  CAS  Google Scholar 

  9. Pfeiffer, P. et al. Mutagenesis 15, 289–302 (2000).

    Article  CAS  Google Scholar 

  10. Lukusa, T. & Fryns, J.P. Biochim. Biophys. Acta 1779, 3–16 (2008).

    Article  CAS  Google Scholar 

  11. Herszfeld, D. et al. Nat. Biotechnol. 24, 351–357 (2006).

    Article  CAS  Google Scholar 

  12. Camps, J. et al. Cancer Res. 68, 1284–1295 (2008).

    Article  CAS  Google Scholar 

  13. Yin, Z. et al. Oncogene 20, 2273–2280 (2001).

    Article  CAS  Google Scholar 

Download references


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).

Author information

Authors and Affiliations



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.

Corresponding author

Correspondence to Claudia Spits.

Supplementary information

Supplementary Text and Figures

Figures 1–10, Methods (PDF 6018 kb)

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing