Dissecting ELANE neutropenia pathogenicity by human HSC gene editing

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...

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Veröffentlicht in:	Cell stem cell 2021-05, Vol.28 (5), p.833-845.e5
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Congenital Bone Marrow Failure Syndromes CRISPR screen ELANE frameshift Gene Editing hematopoietic stem and progenitor cells Humans Leukocyte Elastase - genetics Mutation - genetics Neutropenia - genetics nonsense-mediated decay severe congenital neutropenia therapeutic gene editing translational repression unfolded protein response Virulence xenograft mouse model
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