Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters.

IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-28 DOI:10.1016/j.scr.2024.103645
Helena Isla-Magrané, Maddalen Zufiaurre-Seijo, Miguel Ángel Zapata, Josep García-Arumí, Anna Duarri
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Abstract

Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters. These three hiPSC lines maintain a normal karyotype, exhibit pluripotency gene expression, and can differentiate into the three germ layers.

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从视网膜色素性视网膜炎25例患者和2例无症状的女儿身上获得3种人类诱导多能干细胞系。
色素性视网膜炎25型(RP25)是一种遗传性视网膜营养不良的形式,其特征是杆状光感受器的逐渐丧失,随后锥体光感受器变性,最终视网膜色素上皮。由EYS基因突变引起,它被认为对视网膜的结构和功能完整性至关重要。利用非整合性RNA重编程方法,我们从RP25患者和携带但无症状的子细胞中获得了人类诱导多能干细胞(hiPSC)系。这三个hiPSC系保持正常核型,表现出多能性基因表达,并能分化成三个胚层。
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来源期刊
Stem cell research
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.
期刊最新文献
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