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Article

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell stem cell - 3 Mar 2022

Merkle Florian T, Ghosh Sulagna, Genovese Giulio, Handsaker Robert E, Kashin Seva, Meyer Daniel, Karczewski Konrad J, O'Dushlaine Colm, Pato Carlos, Pato Michele, MacArthur Daniel G, McCarroll Steven A, Eggan Kevin

Abstract excerpt

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...

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Identifiers

PMID: 35176222
DOI: 10.1016/j.stem.2022.01.011
PMCID: PMC8900618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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