Derivation of pluripotent stem cell lines (RFSCi005-A, RFSCi006-A) from siblings harboring identical high-risk complement variants with discordant age-related macular degeneration

IF 0.6 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-12-01 Epub Date: 2025-10-21 DOI:10.1016/j.scr.2025.103852

Naresh Rajendran , Ajeet Singh , Wendy Runyon , Sam Hu , Ritu Kumar , Rinki Ratnapriya , Karl Csaky , Srinivasa R. Sripathi

引用次数: 0

Abstract

Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.

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多能干细胞系（RFSCi005-A, RFSCi006-A）的衍生来自具有相同高风险补体变异的兄弟姐妹，这些变体具有不一致的年龄相关性黄斑变性。

老年性黄斑变性（AMD）是一种受遗传和环境因素影响的复杂疾病。补体通路的变异，尤其是CFH基因的变异，会增加AMD的风险，但具有相同高危基因型的个体的疾病严重程度可能不同。我们从携带相同高风险补体变异但显示不一致AMD表型的兄弟姐妹中产生了诱导多能干细胞（iPSC）系。这些细胞系为研究表观遗传、转录组学和驱动AMD异质性的环境因素提供了一个独特的平台。通过比较分化的视网膜细胞，我们旨在揭示不同疾病易感性背后的机制，并为AMD的个性化治疗提供信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.