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

Stem Cell Res. 2021 Aug:55:102445. doi: 10.1016/j.scr.2021.102445. Epub 2021 Jun 27.


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.

Keywords: GATA2 deficiency; Gene Editing; Induced Pluripotent stem cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CRISPR-Cas Systems / genetics
  • GATA2 Deficiency*
  • GATA2 Transcription Factor / genetics
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Myelodysplastic Syndromes* / genetics


  • GATA2 Transcription Factor
  • GATA2 protein, human