Abstract

Reducing genomic instability in iPSCs.

Highlights

  • Over the past 15 years, pluripotent cells, either embryonic stem cells (ESCs) or induced pluripotent stem cells, became a formidable cellular platform to study developmental biology, model disease in vitro and pursue new drug discoveries

  • The induction of pluripotency by reprogramming somatic cells into induced pluripotent stem cells (iPSCs) through the forced expression of defined transcription factors has been associated with the accumulation of genomic aberrancies ranging from whole chromosome aneuploidies, sub-chromosomal deletions/amplifications or copy number variants (CNVs) to point mutations [2]

  • Replication stress (RS) is a source of DNA damage associated with the stalling of replication forks, which leads to the accumulation of ssDNA that in turn causes recombination and genomic rearrangements

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Summary

Introduction

Over the past 15 years, pluripotent cells, either embryonic stem cells (ESCs) or induced pluripotent stem cells (iPSCs), became a formidable cellular platform to study developmental biology, model disease in vitro and pursue new drug discoveries. Genomic instability in pluripotent cells has been detected since the early 2000’s when karyotypically abnormal human ESC lines were observed following their derivation and expansion in culture. The induction of pluripotency by reprogramming somatic cells into iPSCs through the forced expression of defined transcription factors has been associated with the accumulation of genomic aberrancies ranging from whole chromosome aneuploidies, sub-chromosomal deletions/amplifications or copy number variants (CNVs) to point mutations [2].

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