Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Sep:71:103189.
doi: 10.1016/j.scr.2023.103189. Epub 2023 Aug 28.

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

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
Affiliations

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

Pilar Montero-Calle et al. Stem Cell Res. 2023 Sep.

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.

PubMed Disclaimer

Conflict of interest statement

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Olalla Iglesias Garcia reports financial support was provided by Pfizer Inc.

Publication types