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

遗传性淀粉样变性多发性神经病患者携带杂合性转甲状腺素蛋白 （ TTR ） 突变的两个诱导多能干细胞系的产生。

• 影响指数: 1.587
• 发表时间: 2024 02 29
• 来源期刊: Stem Cell Res
• DOI: 10.1016/j.scr.2023.103265
• PMID: 38100909
• 文章类型: Journal Article
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Melesio J,Bonilauri B,Li A,Pang PD,Liao R,Witteles RM,Wu JC,Sallam K

关键词: Amyloidosis; Pluripotency; Polyneuropathy; Stem cells; TTR; Transthyretin; hiPSC

Mesh: Humans; Induced Pluripotent Stem Cells / metabolism; Prealbumin / genetics metabolism; Amyloid Neuropathies, Familial / genetics metabolism; Polyneuropathies / genetics metabolism; Mutation / genetics

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.

摘要

遗传性转甲状腺素蛋白淀粉样变性多发性神经病（ATTR-PN）是由特定的TTR基因突变引起的。在这项研究中,我们从具有杂合子TTR基因突变的ATTR-PN患者(Ala97Ser和Phe64Leu)中产生了两个诱导多能干细胞(iPSC)系.这些iPSC系表现出正常的形态，核型,高多能性标记表达，并分化成代表所有胚层的细胞。这些iPSC系的产生作为研究ATTR-PN跨各种细胞类型的机制和促进患者特异性体外淀粉样变性建模的有价值的工具。