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20q11.21 most common recurrent structural abnormality
• Detected in over 20% of hESC lines globally
• Repeatedly reported by different research groups
• Includes the genes HM13, ID1 and BCL2L1:
- ID1 promotes self renewal in stem cells (Romero-Lanman et al., 2012)
- BCL2L1 encodes anti-apoptotic protein Bcl-xL, promotes cell survival (Nguyen et al., 2013)
- Duplicated region also often encompasses DNMT3B, important pluripotency-associated gene (Spits et al., 2008)
Amps et al. Nature Biotechnology, 2011
Duplications of regions containing pluripotency genes
Elliot et al., Molecular Biotechnology, 2010; Spits et al. Nature Biotechnology, 2008
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