Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene

Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A...

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Autores: Montero, P. (Pilar)|||/items/16d0acec-277d-4dba-9c72-cc02731289a5, Flandes-Iparraguirre, M. (María)|||/items/a6e2b5bc-d2e2-4e55-a013-a472f9083dc1, Kuebler, B. (Brend)|||/items/093707f5-3c5b-48fa-b198-1896cd6206ab, Arán, B. (Begoña)|||/items/cef67dd1-6904-42bb-b065-621b03516c2b, Larequi-García, E. (Eduardo)|||/items/c82f1e42-2768-4025-bddc-ad659209577c, Anaut, I. (Ilazki)|||/items/71e222fc-9392-4de1-889c-1fc0aa89b57c, Coppiello, G. (Giulia)|||/items/d1d63554-537e-458e-8f86-02ae9264fe14, Veiga, A. (Anna)|||/items/f0b660bd-aaff-4fc0-9688-dc5e128d2ee9, Basurte-Elorz, M.T. (María Teresa)|||/items/ea05810c-ca40-4d1a-a81f-ccec06313130, García-de-Yébenes-Castro, M. (Manuel)|||/items/1d967062-cbca-4f77-b0f0-fabea77e39db, Gavira-Gómez, J.J. (Juan José)|||/items/a253ead5-4ef7-4b80-9aab-43b47605270e, Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1, Iglesias-García, O. (Olalla)|||/items/93424e57-6115-4ea0-bcea-436fa10ec58d, Mazo-Vega, M.M. (Manuel María)|||/items/c871e8d9-ee5d-487b-97ef-7302feb8a02e, Aranguren-López, X. (Xabier)|||/items/217519c3-f392-48cb-b4c9-87d4e2fd0570
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad de Navarra
Repositorio:Dadun. Depósito Académico Digital de la Universidad de Navarra
Idioma:inglés
OAI Identifier:oai:dadun.unav.edu:10171/67334
Acceso en línea:https://hdl.handle.net/10171/67334
Access Level:acceso abierto
Palabra clave:Transthyretin
Amyloid cardiomyopathy
Liver cells
Pluripotent stem cell (iPSC)
Descripción
Sumario:Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) from a patient suffering familial transthyretin amyloid cardiomyopathy carrying a c.128G>A (p.Ser43Asn) mutation in the TTR gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for therapeutic discovery.

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