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从一名患有色素性视网膜炎25型的患者以及两名无症状的携带者女儿(她们是患者的女儿)身上成功培育出三株人类诱导多能干细胞系。

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

作者信息

Isla-Magrané Helena, Zufiaurre-Seijo Maddalen, Zapata Miguel Ángel, García-Arumí Josep, Duarri Anna

机构信息

Ophthalmology Research Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.

Ophthalmology Research Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Ophthalmology, Vall d'Hebron Hospital Universitari, Barcelona, Spain.

出版信息

Stem Cell Res. 2025 Feb;82:103645. doi: 10.1016/j.scr.2024.103645. Epub 2024 Dec 28.

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.

摘要

25型视网膜色素变性(RP25)是一种遗传性视网膜营养不良,其特征是视杆光感受器逐渐丧失,随后视锥光感受器变性,最终视网膜色素上皮也发生变性。它由EYS基因突变引起,被认为对视网膜的结构和功能完整性至关重要。我们使用一种非整合性RNA重编程方法,从RP25患者以及携带该突变但无症状的女儿中生成了人诱导多能干细胞(hiPSC)系。这三个hiPSC系保持正常核型,表现出多能性基因表达,并且能够分化为三个胚层。

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