Generation of a genetically-modified induced pluripotent stem cell line harboring a Noonan syndrome-associated gene variant MRAS p.G23V


Patients harboring causative gene variants in RAS GTPase MRAS develop Noonan syndrome and early-onset hypertrophic cardiomyopathy. Here, we describe the generation of a human iPSC line harboring the Noonan syndrome-associated MRAS p.G23V variant by using CRISPR/Cas9 technology. The established MRASG23V iPSC line allows to study MRAS-specific pathomechanisms and to test novel therapeutic strategies in various disease-relevant cell types and tissues. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Busley AV, Cyganek L
Journal Stem cell research
Publication Date 2023 Jun;69:103108
PubMed 37141804
DOI 10.1016/j.scr.2023.103108

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