Transcriptomics

Dataset Information

6

Genomic analysis of hESC pedigrees enables identification of de novo genetic alterations and determination of the timing and origin of mutational events


ABSTRACT: Given the association between mutational load and cancer, the observation that genetic aberrations are frequently found in human pluripotent stem cells (hPSCs) is of concern. Prior studies in hiPSCs have shown that deletions and regions of loss-of-heterozygosity (LOH) tend to arise during reprogramming and early culture, while duplications more frequently occur during long-term culture. For the corresponding experiments in hESCs, we studied two sets of hESC lines: one including the corresponding parental DNA; and the other generated from single blastomeres from four sibling embryos. Here, we show for the first time that genetic aberrations observed in hESCs can originate during preimplantation embryo development and/or early derivation. These early aberrations are mainly deletions and LOH, while aberrations arising during long-term culture of hESCs are more frequently duplications. Our results highlight the importance of close monitoring of genomic integrity and the development of improved methods for derivation and culture of hPSCs. Total DNA extracted at from human embryonic stem cells originated independently

ORGANISM(S): Homo sapiens  

SUBMITTER: Louise C Laurent   Francesca Boscolo  Dalit Ben-Yosef  Ami Amit  Hadar Amir  Francesca S Boscolo  Mira Malcov 

PROVIDER: E-GEOD-49452 | ArrayExpress | 2014-04-21

SECONDARY ACCESSION(S): GSE49452PRJNA213967

REPOSITORIES: GEO, ArrayExpress

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Publications

Genomic analysis of hESC pedigrees identifies de novo mutations and enables determination of the timing and origin of mutational events.

Ben-Yosef Dalit D   Boscolo Francesca S FS   Amir Hadar H   Malcov Mira M   Amit Ami A   Laurent Louise C LC  

Cell reports 20130912 6


Given the association between mutational load and cancer, the observation that genetic aberrations are frequently found in human pluripotent stem cells (hPSCs) is of concern. Prior studies in human induced pluripotent stem cells (hiPSCs) have shown that deletions and regions of loss of heterozygosity (LOH) tend to arise during reprogramming and early culture, whereas duplications more frequently occur during long-term culture. For the corresponding experiments in human embryonic stem cells (hESC  ...[more]

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