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

Montero, P. (Pilar); Flandes-Iparraguirre, M. (María); Kuebler, B. (Brend); Arán, B. (Begoña); Larequi-García, E. (Eduardo); Anaut, I. (Ilazki); Coppiello, G. (Giulia); Aranguren, X.L. (Xabier L.); Veiga, A. (Anna); Basurte-Elorz, M.T. (María Teresa); Garcia-de-Yebenes, M. (Manuel); Gavira, J.J. (Juan José); Prosper-Cardoso, F. (Felipe); Iglesias-García, O. (Olalla); Mazo, M. (Manuel)

Keywords:

Transthyretin
Amyloid cardiomyopathy
Liver cells
Pluripotent stem cell (iPSC)

Issue Date:

2023

Publisher:

Elsevier

ISSN:

1876-7753

Note:

This is an open access article under the CC BY-NC-ND license

Citation:

Montero, P. (Pilar); Flandes-Iparraguirre, M. (María); Kuebler, B. (Brend); et al. "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". Stem Cell Research. 71, 2023, 103189

Abstract

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.

URI:

https://hdl.handle.net/10171/67334

DOI:

10.1016/j.scr.2023.103189

Appears in Collections:

DA - CIMA - Medicina regenerativa - Terapia celular - Artículos de Revista
DA - CUN - Medicina interna - Artículos de revista

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