Generation of two heterozygous GATA2 CRISPR/Cas9-edited iPSC lines, R398W and R396Q, for modeling GATA2 deficiency


Germline heterozygous GATA2 mutations underlie a complex disorder characterized by bone marrow failure, immunodeficiency and high risk to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Our understanding about GATA2 deficiency is limited due to the lack of relevant disease models. Here we generated high quality human induced pluripotent stem cell (iPSC) lines carrying two of the most recurrent germline GATA2 mutations (R389W and R396Q) associated with MDS, using CRISPR/Cas9. These hiPSCs represent an in vitro model to study the molecular and cellular mechanisms underlying GATA2 deficiency, when differentiated into blood progenitors. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Castaño J, Romero-Moya D, Richaud-Patin Y, Giorgetti A
Journal Stem cell research
Publication Date 2021 Aug;55:102445
PubMed 34284273
DOI 10.1016/j.scr.2021.102445

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