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http://hdl.handle.net/2445/181015
Title: | Generation of two heterozygous GATA2 CRISPR/Cas9-edited iPSC lines, R398W and R396Q, for modeling GATA2 deficiency |
Author: | Castaño, Julio Romero Moya, Damià Richaud-Patin, Yvonne Giorgetti, Alessandra |
Keywords: | Biologia molecular Immunodeficiència Molecular biology Immunodeficiency |
Issue Date: | 1-Aug-2021 |
Publisher: | Elsevier BV |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2021.102445 |
It is part of: | Stem Cell Research, 2021, vol. 55, p. 102445 |
URI: | http://hdl.handle.net/2445/181015 |
Related resource: | https://doi.org/10.1016/j.scr.2021.102445 |
ISSN: | 1873-5061 |
Appears in Collections: | Articles publicats en revistes (Patologia i Terapèutica Experimental) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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1-s2.0-S1873506121002920-main.pdf | 2.85 MB | Adobe PDF | View/Open |
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