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Article

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.

Cell stem cell - 6 May 2021

Rao Shuquan, Yao Yao, Soares de Brito Josias, Yao Qiuming, Shen Anne H, Watkinson Ruth E, Kennedy Alyssa L, Coyne Steven, Ren Chunyan, Zeng Jing, Serbin Anna Victoria, Studer Sabine, Ballotti Kaitlyn, Harris Chad E, Luk Kevin, Stevens Christian S, Armant Myriam, Pinello Luca, Wolfe Scot A, Chiarle Roberto, Shimamura Akiko, Lee Benhur, Newburger Peter E, Bauer Daniel E

Abstract excerpt

Severe congenital neutropenia (SCN) is a life-threatening disorder most often caused by dominant mutations of ELANE that interfere with neutrophil maturation. We conducted a pooled CRISPR screen in human hematopoietic stem and progenitor cells (HSPCs) that correlated ELANE mutations with neutrophil maturation potential. Highly efficient gene editing of early exons elicited nonsense-mediated decay (NMD), overcame...

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Share to Blood disorders and treatments
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33513358
DOI: 10.1016/j.stem.2020.12.015
PMCID: PMC8106646

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Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.PMID 33513358Read ↗

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