作者
Alexej Abyzov, Jessica Mariani, Dean Palejev, Ying Zhang, Michael Seamus Haney, Livia Tomasini, Anthony F Ferrandino, Lior A Rosenberg Belmaker, Anna Szekely, Michael Wilson, Arif Kocabas, Nathaniel E Calixto, Elena L Grigorenko, Anita Huttner, Katarzyna Chawarska, Sherman Weissman, Alexander Eckehart Urban, Mark Gerstein, Flora M Vaccarino
发表日期
2012/12/20
期刊
Nature
卷号
492
期号
7429
页码范围
438-442
出版商
Nature Publishing Group
简介
Reprogramming somatic cells into induced pluripotent stem cells (iPSCs) has been suspected of causing de novo copy number variation,,,. To explore this issue, here we perform a whole-genome and transcriptome analysis of 20 human iPSC lines derived from the primary skin fibroblasts of seven individuals using next-generation sequencing. We find that, on average, an iPSC line manifests two copy number variants (CNVs) not apparent in the fibroblasts from which the iPSC was derived. Using PCR and digital droplet PCR, we show that at least 50% of those CNVs are present as low-frequency somatic genomic variants in parental fibroblasts (that is, the fibroblasts from which each corresponding human iPSC line is derived), and are manifested in iPSC lines owing to their clonal origin. Hence, reprogramming does not necessarily lead to de novo CNVs in iPSCs, because most of the line-manifested CNVs reflect …
学术搜索中的文章
A Abyzov, J Mariani, D Palejev, Y Zhang, MS Haney… - Nature, 2012