Analysis of protein-coding mutations in hiPSCs and their possible role during somatic cell reprogramming

Sergio Ruiz, Athurva Gore, Zhe Li, Athanasia D. Panopoulos, Nuria Montserrat, Ho Lim Fung, Alessandra Giorgetti, Josipa Bilic, Erika M. Batchelder, Holm Zaehres, Hans R. Schöler, Kun Zhang, Juan Carlos Izpisua Belmonte*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


Recent studies indicate that human-induced pluripotent stem cells contain genomic structural variations and point mutations in coding regions. However, these studies have focused on fibroblast-derived human induced pluripotent stem cells, and it is currently unknown whether the use of alternative somatic cell sources with varying reprogramming efficiencies would result in different levels of genetic alterations. Here we characterize the genomic integrity of eight human induced pluripotent stem cell lines derived from five different non-fibroblast somatic cell types. We show that protein-coding mutations are a general feature of the human induced pluripotent stem cell state and are independent of somatic cell source. Furthermore, we analyse a total of 17 point mutations found in human induced pluripotent stem cells and demonstrate that they do not generally facilitate the acquisition of pluripotency and thus are not likely to provide a selective advantage for reprogramming.

Original languageEnglish (US)
Article number1382
JournalNature Communications
StatePublished - 2013
Externally publishedYes

Bibliographical note

Funding Information:
We express our gratitude to Travis Berggren, Margaret Lutz and Veronica Modesto for their support at the Salk Institute-Stem Cell Core, to Joaquin Sebastian for critically reading the manuscript, to Guanghui Liu for sharing reagents and to the rest of the Belmonte lab. A.G. was supported by the Focht-Powell Fellowship and a CIRM predoctoral fellowship. Work in this manuscript was supported by grants from Funda-cion Cellex, TERCEL-ISCIII-MINECO, Sanofi, National Institutes of Health and the G. Harold and Leila Y. Mathers Charitable Foundation.

ASJC Scopus subject areas

  • General Chemistry
  • General Biochemistry, Genetics and Molecular Biology
  • General Physics and Astronomy


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