Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation.
Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation.
复制标题
从携带杂合运甲状腺素蛋白 (TTR) 突变的患有多发性神经病的遗传性淀粉样变性患者中产生两种诱导多能干细胞系。
DOI：
10.1016/j.scr.2023.103265
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发表时间：
2024
影响因子：
1.2
通讯作者：
Sallam,Karim
中科院分区：
文献类型：
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作者：
Melesio,Juan;Bonilauri,Bernardo;Li,Audrey;Pang,PaulD;Liao,Ronglih;Witteles,RonaldM;Wu,JosephC;Sallam,Karim
遗传性甲状腺素运载蛋白淀粉样变性伴多发性神经病（ATTR-PN）是由特异性TTR基因突变引起的。在这项研究中，我们产生了两个诱导多能干细胞（iPSC）系来自ATTR-PN患者异源TTR基因突变（Ala 97 Ser和Phe 64 Leu）。这些iPSC系表现出正常形态、核型、高多能性标志物表达和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在各种细胞类型中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。
Hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN) results from specificTTRgene mutations. In this study, we generated two induced pluripotent stem cell (iPSC) lines derived from ATTR-PN patients with heterozygousTTRgene 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.