Publicaciones científicas

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

01-sep-2023 | Revista: Stem Cell Research

Pilar Montero-Calle  1 , María Flandes-Iparraguirre  1 , Bernd Kuebler  2 , Begoña Arán  2 , Eduardo Larequi  3 , Ilazki Anaut  1 , Giulia Coppiello  1 , Xabier L Aranguren  1 , Anna Veiga  2 , Maria Teresa Basurte Elorz  4 , Manuel García de Yébenes  5 , Juan J Gavira  6 , Felipe Prósper  7 , Olalla Iglesias-García  8 , Manuel M Mazo Vega  9


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.

CITA DEL ARTÍCULO  Stem Cell Res. 2023 Sep;71:103189.  doi: 10.1016/j.scr.2023.103189.  Epub 2023 Aug 28