Autor: |
Alexandra Viktoria Busley, Lukas Cyganek |
Jazyk: |
angličtina |
Rok vydání: |
2023 |
Předmět: |
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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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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