Listar por autor "Zabalegui, Federico"

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Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy

Zabalegui, Federico; Castañeda, Sheila; Amin, Guadalupe; Belli, Carolina; Miriuka, Santiago Gabriel; Moro, Lucía Natalia (Elsevier, 2024-01-10)

FHL1 gene locates in the Xq26 region and encodes for four and half LIM domain protein 1. It plays a crucial role in muscle cells and mutations in FHL1 are related to muscular dystrophy (MD). Peripheral blood mononuclear ...
Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro modeling

Amín, Guadalupe; Castañeda, Sheila; Zabalegui, Federico; Belli, Carolina; Atorrasagasti, Catalina; Miriuka, Santiago Gabriel; Moro, Lucía Natalia (Elsevier, 2023-06-25)

The arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by the progressive replacement of contractile myocardium by fibro-fatty adipose tissue, that generates ventricular arrhythmias and ...

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