Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying p.I1567M mutation


Germline SAMD9 mutations are one of the most common alterations that predispose to pediatric myelodysplastic syndrome (MDS), a clonal disorder characterized by ineffective hematopoiesis, increasing the risk of developing acute myeloid leukemia (AML). Up to date, a disease model to study the role of SAMD9 mutation in MDS is still lacking. Here, we have generated a human induced pluripotent stem cell (hiPSC) line carrying SAMD9mut (p.I1567M), taking advantage of CRISPR/Cas9 system. As a result, the genetic engineered hiPSC line represent a new in vitro disease model to understand the impact of SAMD9 mutation at molecular and cellular level during hematopoiesis. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Pera J, Castaño J, Casamitjana J, Giorgetti A, Romero-Moya D
Journal Stem cell research
Publication Date 2022 Sep 3;64:102906
PubMed 36087523
DOI 10.1016/j.scr.2022.102906

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