CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.

doi:10.1038/s41375-025-02771-8

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Article

CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.

Leukemia - 1 Dec 2025

Romero-Moya Damia, Torralba-Sales Eric, Calvo Cristina, Marin-Bejar Oskar, Magallon-Mosella Maria, Distefano Maximiliano, Pera Joan, Castaño Julio, De Giorgio Francesca, Gonzalez Jessica, Iglesias Arnau, Berenguer-Balaguer Clara, Schilling Marcel, Plass Mireya, Pasquali Lorenzo, Català Albert, Molina Oscar, Wlodarski Marcin W, Bigas Anna, Giorgetti Alessandra

Abstract excerpt

GATA2 deficiency is a monogenic transcriptopathy disorder characterized by bone marrow failure (BMF), immunodeficiency, and a high risk of developing myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). Although informative mouse models have been developed, the mechanisms by which GATA2 haploinsufficiency drives disease initiation in humans remain incompletely understood. To address this, we...

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PMID: 40954215
DOI: 10.1038/s41375-025-02771-8
PMCID: PMC12634441

Genes

GATA2
ASXL1
CD34
SETBP1
BMF

Variants

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