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.
authors: Gene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, California 92037, USA.
authors: Sergio
authors: S
authors: Ruiz
authors: Athurva
authors: A
authors: Gore
authors: Zhe
authors: Z
authors: Li
authors: Athanasia D
authors: AD
authors: Panopoulos
authors: Nuria
authors: N
authors: Montserrat
authors: Ho-Lim
authors: HL
authors: Fung
authors: Alessandra
authors: A
authors: Giorgetti
authors: Josipa
authors: J
authors: Bilic
authors: Erika M
authors: EM
authors: Batchelder
authors: Holm
authors: H
authors: Zaehres
authors: Hans R
authors: HR
authors: Schöler
authors: Kun
authors: K
authors: Zhang
authors: Juan Carlos
authors: JC
authors: Izpisua Belmonte
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002460:Cell Line; D065150:Cellular Reprogramming / Q000235:genetics*; D005347:Fibroblasts / Q000166:cytology; D020868:Gene Silencing; D061307:Human Umbilical Vein Endothelial Cells; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D012190:Retroviridae; D017423:Sequence Analysis, RNA