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

Autor: Alexandra Viktoria Busley, Lukas Cyganek
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Stem Cell Research, Vol 69, Iss , Pp 103108- (2023)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2023.103108
Popis: 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.
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