Uncovering cell type-specific phenotypes using a novel human in vitro model of transthyretin amyloid cardiomyopathy

Uncovering cell type-specific phenotypes using a novel human in vitro model of transthyretin amyloid cardiomyopathy

Abstract Background Transthyretin amyloid cardiomyopathy (ATTR-CM) is characterized by the misfolding of transthyretin (TTR), fibrillogenesis, and progressive amyloid fibril deposition in the myocardium, leading to cardiac dysfunction with dismal prognosis. In ATTR-CM, either destabilizing mutations...

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Main Authors: Jiabin Qin, Qiangbing Yang, Asier Ullate-Agote, Vasco Sampaio-Pinto, Laura Florit, Inge Dokter, Chrysoula Mathioudaki, Lotte Middelberg, Pilar Montero-Calle, Paula Aguirre-Ruiz, Joana de las Heras Rojo, Zhiyong Lei, Zeping Qiu, Jin Wei, Pim van der Harst, Felipe Prosper, Manuel M. Mazo, Olalla Iglesias-García, Monique C. Minnema, Joost P. G. Sluijter, Marish I.F.J. Oerlemans, Alain van Mil
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Stem Cell Research & Therapy
Subjects:
Transthyretin amyloid cardiomyopathy
In vitro disease model
TTR fibrils
Variant TTR
iPSC
Online Access:https://doi.org/10.1186/s13287-025-04464-6
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https://doi.org/10.1186/s13287-025-04464-6

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