Recurrents and associated papers

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

Recurrents:

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 X chromosome(s)
  • Gain of chromosome 1, specifically 1q; e.g., trisomy 1, dup1q, +iso1q, or any der resulting in gain of 1q sequences
  • Gain of chromosome 8
  • Gain of chromosome 12, specifically 12p; e.g., trisomy 12, dup12p, or +iso12p
  • Gain of chromosome 17, specifically 17q; e.g., trisomy 17, dup17q, or any der resulting in gain of 17q
  • Loss of chromosome 18, specifically 18q resulting in the deletion of the critical region at 18q21.2
  • Gain of chromosome 20, specifically 20q; e.g., trisomy 20, dup20q, iso20q, or any der resulting in gain of 20q

Publications:


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