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Article

Genome-wide analysis of haploinsufficiency in human embryonic stem cells.

Cell reports - 29 Mar 2022

Sarel-Gallily Roni, Golan-Lev Tamar, Yilmaz Atilgan, Sagi Ido, Benvenisty Nissim

Abstract excerpt

Haploinsufficiency describes a phenomenon where one functioning allele is insufficient for a normal phenotype, underlying several human diseases. The effect of haploinsufficiency on human embryonic stem cells (hESC) has not been thoroughly studied. To establish a genome-wide loss-of-function screening for heterozygous mutations, we fuse normal haploid hESCs with a library of mutant haploid hESCs. We identify over...

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PMID: 35354027
DOI: 10.1016/j.celrep.2022.110573

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