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

从携带 TTR 基因 p.Ser43Asn 突变的转甲状腺素蛋白淀粉样心肌病 (ATTR-CM) 患者中生成诱导性多能干细胞系 (ESi107-A)

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作者:Pilar Montero-Calle, María Flandes-Iparraguirre, Bernd Kuebler, Begoña Arán, Eduardo Larequi, Ilazki Anaut, Giulia Coppiello, Xabier L Aranguren, Anna Veiga, Maria Teresa Basurte Elorz, Manuel García de Yébenes, Juan J Gavira, Felipe Prósper, Olalla Iglesias-García, Manuel M Mazo Vega

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.

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