诱导多能干细胞系IOCVi002-A从foxe3相关的无晶状体硬角膜畸形患者的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-22 DOI:10.1016/j.scr.2025.103816

Jessica Nava , Guillermo Galvez-Romero , German Mora-Roldan , Oscar J. Parada-Parra , Arturo Hernandez-Cruz , Juan Carlos Zenteno

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引用次数: 0

摘要

前段发育异常（ASDs）是一种异质组眼发育异常，通常与儿童年龄的严重视力障碍有关。在这里，我们报道了从纯合子致病性c.292患者中产生的iPSC系IOCVi002-AT > C (p.(Y98H)))在FOXE3基因中的变异导致了以硬角膜和无晶状体为特征的ASD表型。IOCVi002-A细胞形态正常，具有典型的干性和多能性。该iPSC细胞系可用于影响眼睛前部结构的发育性眼异常的体外疾病建模。

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Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation

Anterior segment dysgeneses (ASDs) are a heterogeneous group of ocular developmental anomalies commonly associated with severe visual disability in pediatric age. Here, we report the generation of the iPSC line IOCVi002-A from a patient with a homozygous pathogenic c.292 T > C (p.(Y98H)) variant in the FOXE3 gene causing an ASD phenotype characterized by sclerocornea and aphakia. IOCVi002-A cells shows normal morphology, typical stemness and pluripotency. This iPSC line can be used for in vitro disease modeling for developmental ocular anomalies affecting anterior structures of the eye.

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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.