Recurrents and associated papers

Please note that this is a working list that will be updated at the discretion of the Cytogenetics Laboratory. 


Recurrents are an abnormality seen frequently in stem cells that is thought to confer an advantage to the abnormal cells such that they out-compete normal cells in culture.

  • Gain of chromosome X
  • Gain of chromosome Y
  • Gain of chromosome 1, specifically 1q32.1; e.g., trisomy 1, dup1q, +iso1q, or any der resulting in gain of 1q sequences
  • Presence of isochromosome 7p
  • Gain of chromosome 8
  • Gain of chromosome 12, specifically 12p13.3; e.g., trisomy 12, dup12p, or +iso12p
  • Gain of chromosome 14
  • Gain of chromosome 17, specifically 17q25; e.g., trisomy 17, dup17q, or any der resulting in gain of 17q
  • Loss of chromosome 18, specifically 18q21; e.g., del18q or any der resulting in loss of 18q
  • Gain of chromosome 20, specifically 20q11.21; e.g., trisomy 20, dup20q, iso20q, or any der resulting in gain of 20q


Kyriakides O, et al. "Acquired Genetic and Epigenetic Variation in Human Pluripotent Stem Cells" Adv Biochem Eng Biotechnol 2018; 163:187-206 

Baker, DE, et al. "Adaptation to culture of human embryonic stem cells and oncogenesis in vivo" Nat Biotechnol 2007 Feb; 25(2):207-15

Andrews, PW, et. al."Assessing the Safety of Human Pluripotent Stem Cells and Their Derivatives for Clinical Applications" Stem Cell Reports 2017 Jul 11; 9(1):1-4. 

Avery S. et. al. "BCL-XL mediates the strong selective advantage of a 20q11.21 amplificationcommonly found in human embryonic stem cell cultures" Stem Cell Reports 2013 Oct 31; 1(5):379-86

Assou S et. al. "Concise Review: Assessing the Genome Integrity of Human Induced Pluripotent Stem Cells: What Quality Control Metrics?" Stem Cells 2018 Jun; 36(6):814-821

Baker D, et. al. "Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells" Stem Cell Reports 2016 Nov 8;7(5):998-1012

Martin, CL, et. al. "Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence." Annu Rev Genomics Hum Genet. 2015;16:309-26

D'Antonio, M, et. al. "High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells" Stem Cell Reports 2017 Apr 11;8(4):1101-1111

Jacobs, K., et. al. "Higher-Density Culture in Human Embryonic Stem Cells Results in DNA Damage and Genome Instability" Stem Cell Reports 2016 Mar 8; 6(3):330-41

Catalina, P., et. al. "Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties?" Mol Cancer 2008 Oct 3;7:76

Merkle, FT, et. al. "Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations" Nature 2017 May 11:545(7653):229-233

Mayshar, Y., et. al. "Identification and Classification of Chromosomal Aberrations in Human Induced Pluripotent Stem Cells" Cell Stem Cell 2010 Oct 8:7(4):521-31

Garitaonandia, I., et. al. "Increased Risk of Genetic and Epigenetic Instability in Human Embryonic Stem Cells Associated with Specific Culture Conditions" PloS One 2015 Feb 25;10(2):e0118307

Taapken, S. et. al. "Karyotypic abnormalities in human induced pluripotent stem cells and embryonic stem cells"  Nat Biotechnol 2011 Ap 29(4):313-4

Assou, S. et. al. "Concise Review: Assessing the Genome Integrity of Human Induced Pluripotent Stem Cells: What Quality Control Metrics?" Stem Cells 2018 Jun;36(6):814-821

International Stem Cell Initiative et. al. "S creening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage: Nat Biotechnol 2011 Nov 27;29(12):1132-44

Barbaric, I, et. al. "Time-Lapse Analysis of Human Embryonic Stem Cells Reveals Multiple Bottlenecks Restricting Colony Formation and Their Relief upon Culture Adaptation" Stem Cell Reports 2014 Jun 12;3(1):142-55