Human embryonic stem cells reveal recurrent genomic instability at 20q11.21


By analyzing five human embryonic stem (hES) cell lines over long-term culture, we identified a recurrent genomic instability in the human genome. An amplification of 2.5–4.6 Mb at 20q11.21, encompassing 23 genes in common, was detected in four cell lines of different origins. This amplification, which has been associated with oncogenic transformation, may provide a selective advantage to hES cells in culture.

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Figure 1: Genomic instability at 20q11.21 in SA01.

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Gene Expression Omnibus


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This study has been supported in part by additional grants from Medicen Paris Region (IngeCELL), EC (FP6, STEM-HD) and ANR (HESCREEN). The authors thank K. Sermon (AZ-VUB, Brussels) for kindly providing VUB cell lines.

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N.L., M.P. and A.L.P. designed the study. N.L. carried out and analyzed CGH and SNP experiments. C.B. carried out the FISH experiments. N.L. and M.F. did all hES cell culture, except for that of H1 cells, which were cultured by O.F. The FISH experiments were designed and analyzed by G.T., A.B.-G. and C.B. A.B.-G. and G.T. edited the paper. N.L., M.P. and A.L.P. contributed to writing the paper.

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Correspondence to Anselme L Perrier.

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Supplementary Figures 1,2, Table 1, Methods (PDF 1046 kb)

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Lefort, N., Feyeux, M., Bas, C. et al. Human embryonic stem cells reveal recurrent genomic instability at 20q11.21. Nat Biotechnol 26, 1364–1366 (2008).

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