从苯丙酮尿症（PKU）患者获得PAH基因复合杂合变异（c.1199 + 502A>T和c.728G> a）的人诱导多能干细胞系（NRIFPi001-A）的产生

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-07-15 DOI:10.1016/j.scr.2025.103778

Yu Wang , Lisha An , Huimin Gao , Chuan Zhang , Lin Wang , Yanping Zhang , Lu Zhang , Yousheng Yan , Xiaohua Jin , Xu Ma

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引用次数: 0

摘要

苯丙氨酸羟化酶（PAH）基因的致病变异导致苯丙酮尿症（PKU），这是一种以神经毒性和出生后认知发育受损为特征的疾病。在这项研究中，我们从典型PKU患者的外周血单个核细胞中产生了人诱导的多能干细胞（iPSC）系，该细胞系携带c.1199 + 502A>T和c.728G> a的复合杂合变异，具有深内含子突变。所得到的iPSCs表现出多能性和三龄分化潜能。该iPSC系为研究PKU的潜在机制提供了一个有价值的模型。

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Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene

Pathogenic variants in the phenylalanine hydroxylase (PAH) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development. In this study, we generated a human-induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a patient with classical PKU carrying a compound heterozygous variant with deep intronic mutation in c.1199 + 502A＞T and c.728G＞A. The resulting iPSCs displayed pluripotency and trilineage differentiation potential. This iPSC line may serve as a valuable model for investigating the underlying mechanism of PKU.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.