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从两名苯丙酮尿症患儿的成纤维细胞中诱导生成多能干细胞 (iPSC) 系。

Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.

机构信息

StemCore, The Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, St Lucia, QLD, Australia.

The Florey Melbourne Brain Centre/Kenneth Myer Building, The University of Melbourne, 30 Royal Parade, Melbourne VIC 3010 Australia.

出版信息

Stem Cell Res. 2024 Jun;77:103405. doi: 10.1016/j.scr.2024.103405. Epub 2024 Mar 28.

Abstract

Phenylketonuria is a rare autosomal recessive metabolic disorder mainly due to a significant reduction in the enzyme phenylalanine hydroxylase, resulting in elevation of phenylalanine in the blood. Here, we have established two fibroblast-derived induced pluripotent stem cell lines using Sendai virus-based reprogramming. The established induced pluripotent stem cell lines exhibited a normal karyotype and expressed markers of pluripotency assessed through quantitative PCR, flow cytometry and immunocytochemistry. These cell lines also demonstrated the ability to differentiate into the three primary germ layers of the human body, including ectoderm, endoderm, and mesoderm.

摘要

苯丙酮尿症是一种罕见的常染色体隐性代谢疾病,主要是由于酶苯丙氨酸羟化酶的显著减少,导致血液中苯丙氨酸升高。在这里,我们使用基于 Sendai 病毒的重编程技术建立了两个成纤维细胞衍生的诱导多能干细胞系。所建立的诱导多能干细胞系表现出正常的核型,并通过定量 PCR、流式细胞术和免疫细胞化学评估表达多能性标志物。这些细胞系还显示出分化为人体三个原始胚层的能力,包括外胚层、内胚层和中胚层。

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