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

doi:10.1038/ncomms2381

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 journal › Article › peer-review

51 Scopus citations

Abstract

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 language	English (US)
Article number	1382
Journal	Nature Communications
Volume	4
DOIs	https://doi.org/10.1038/ncomms2381
State	Published - 2013
Externally published	Yes

ASJC Scopus subject areas

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

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Ruiz, S., Gore, A., Li, Z., Panopoulos, A. D., Montserrat, N., Fung, H. L., Giorgetti, A., Bilic, J., Batchelder, E. M., Zaehres, H., Schöler, H. R., Zhang, K., & Belmonte, J. C. I. (2013). Analysis of protein-coding mutations in hiPSCs and their possible role during somatic cell reprogramming. Nature Communications, 4, Article 1382. https://doi.org/10.1038/ncomms2381

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

abstract = "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.",

author = "Sergio Ruiz and Athurva Gore and Zhe Li and Panopoulos, {Athanasia D.} and Nuria Montserrat and Fung, {Ho Lim} and Alessandra Giorgetti and Josipa Bilic and Batchelder, {Erika M.} and Holm Zaehres and Sch{\"o}ler, {Hans R.} and Kun Zhang and Belmonte, {Juan Carlos Izpisua}",

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.",

year = "2013",

doi = "10.1038/ncomms2381",

language = "English (US)",

volume = "4",

journal = "Nature Communications",

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T1 - Analysis of protein-coding mutations in hiPSCs and their possible role during somatic cell reprogramming

AU - Ruiz, Sergio

AU - Gore, Athurva

AU - Li, Zhe

AU - Panopoulos, Athanasia D.

AU - Montserrat, Nuria

AU - Fung, Ho Lim

AU - Giorgetti, Alessandra

AU - Bilic, Josipa

AU - Batchelder, Erika M.

AU - Zaehres, Holm

AU - Schöler, Hans R.

AU - Zhang, Kun

AU - Belmonte, Juan Carlos Izpisua

N1 - 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.

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

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

Abstract

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