Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/176519
Title: | Somatic coding mutations in human induced pluripotent stem cells |
Author: | Gore, Athurva Li, Zhe Fung, Ho-Lim Young, Jessica Agarwal, Suneet Antosiewicz-Bourget, Jessica Canto, Isabel Giorgetti, Alessandra Israel, Mason A. Kiskinis, Evangelos Lee, Je-Hyuk. Loh, Yuin-Han Manos, Philip D. Montserrat, Núria Panopoulos, Athanasia D. Ruiz, Sergio Wilbert, Melissa L. Yu, Junying Kirkness, Ewen F. Izpisúa Belmonte, Juan Carlos Rossi, Derrick J. Thomson, James A. Eggan, Kevin Daley, George Q. Goldstein, Lawrence S. Zhang, Kun |
Keywords: | Cèl·lules Mutació (Biologia) Metabolisme Genètica Cells Mutation (Biology) Metabolism Genetics |
Issue Date: | 3-Mar-2011 |
Publisher: | Nature Publishing Group |
Abstract: | Defined transcription factors can induce epigenetic reprogramming of adult mammalian cells into induced pluripotent stem cells. Although DNA factors are integrated during some reprogramming methods, it is unknown whether the genome remains unchanged at the single nucleotide level. Here we show that 22 human induced pluripotent stem (hiPS) cell lines reprogrammed using five different methods each contained an average of five protein-coding point mutations in the regions sampled (an estimated six protein-coding point mutations per exome). The majority of these mutations were non-synonymous, nonsense or splice variants, and were enriched in genes mutated or having causative effects in cancers. At least half of these reprogramming-associated mutations pre-existed in fibroblast progenitors at low frequencies, whereas the rest occurred during or after reprogramming. Thus, hiPS cells acquire genetic modifications in addition to epigenetic modifications. Extensive genetic screening should become a standard procedure to ensure hiPS cell safety before clinical use. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1038/nature09805 |
It is part of: | Nature, 2011, vol. 471, num. 7336, p. 63-67 |
URI: | http://hdl.handle.net/2445/176519 |
Related resource: | https://doi.org/10.1038/nature09805 |
ISSN: | 0028-0836 |
Appears in Collections: | Articles publicats en revistes (Patologia i Terapèutica Experimental) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
711112.pdf | 256.89 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.