| Literature DB >> 35176222 |
Florian T Merkle1, Sulagna Ghosh2, Giulio Genovese3, Robert E Handsaker3, Seva Kashin3, Daniel Meyer4, Konrad J Karczewski5, Colm O'Dushlaine6, Carlos Pato7, Michele Pato7, Daniel G MacArthur8, Steven A McCarroll9, Kevin Eggan10.
Abstract
Despite their widespread use in research, there has not yet been a systematic genomic analysis of human embryonic stem cell (hESC) lines at a single-nucleotide resolution. We therefore performed whole-genome sequencing (WGS) of 143 hESC lines and annotated their single-nucleotide and structural genetic variants. We found that while a substantial fraction of hESC lines contained large deleterious structural variants, finer-scale structural and single-nucleotide variants (SNVs) that are ascertainable only through WGS analyses were present in hESC genomes and human blood-derived genomes at similar frequencies. Moreover, WGS allowed us to identify SNVs associated with cancer and other diseases that could alter cellular phenotypes and compromise the safety of hESC-derived cellular products transplanted into humans. As a resource to enable reproducible hESC research and safer translation, we provide a user-friendly WGS data portal and a data-driven scheme for cell line maintenance and selection.Entities:
Keywords: embryonic stem cell; genetic variant; genomics; pluripotent; rational selection; resource; whole-genome sequencing
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Year: 2022 PMID： 35176222 PMCID： PMC8900618 DOI： 10.1016/j.stem.2022.01.011
Source DB: PubMed Journal: Cell Stem Cell ISSN： 1875-9777 Impact factor: 25.269