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 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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Montero-Calle P, Flandes-Iparraguirre M, Kuebler B, Arán B, Larequi E, Anaut I, Coppiello G, Aranguren XL, Veiga A, Elorz MTB, de Yébenes MG, Gavira JJ, Prósper F, Iglesias-García O, Vega MMM
Journal Stem cell research
Publication Date 2023 Sep;71:103189
PubMed 37660554
DOI 10.1016/j.scr.2023.103189

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