Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation

从携带杂合转甲状腺素蛋白 (TTR) 突变的多发性神经病的遗传性淀粉样变性患者中产生两种诱导性多能干细胞系

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作者:Juan Melesio, Bernardo Bonilauri, Audrey Li, Paul D Pang, Ronglih Liao, Ronald M Witteles, Joseph C Wu, Karim Sallam

Abstract

Hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN) results from specific TTR gene mutations. In this study, we generated two induced pluripotent stem cell (iPSC) lines derived from ATTR-PN patients with heterozygous TTR gene mutations (Ala97Ser and Phe64Leu). These iPSC lines exhibited normal morphology, karyotype, high pluripotency marker expression, and differentiation into cells representing all germ layers. The generation of these iPSC lines serve as a valuable tool for investigating the mechanisms of ATTR-PN across various cell types and facilitating patient-specific in vitro amyloidosis modeling.

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