Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-14 DOI:10.1016/j.scr.2025.103807

Didi Shan , Hongxu Wang , Jianing Li , Yu Wang , Fuchen Liu

引用次数: 0

Abstract

We used a non-integrated reprogramming approach to establish a human induced pluripotent stem cell (hiPSC) line (INNDSUi011-A) from the skin fibroblasts of a 38-year-old female individual with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation. The cells obtained demonstrate key characteristics of embryonic stem cells, including the expression of specific pluripotency markers and the capacity to differentiate into the three germ layers in vitro. This iPSC cell line retains the patient’s genetic information, making it a valuable model for studying disease mechanisms and developing novel therapies.

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从ALDH18A1突变引起的常染色体显性痉挛性截瘫9A患者身上建立诱导多能干细胞（INNDSUi011-A）系

我们采用非整合重编程方法，从一位38岁常染色体显性遗传性ALDH18A1突变导致的痉挛性截瘫9A患者的皮肤成纤维细胞中建立了人诱导多能干细胞（hiPSC）系（INNDSUi011-A）。获得的细胞表现出胚胎干细胞的关键特征，包括特异性多能性标记的表达和在体外分化成三种胚层的能力。这种iPSC细胞系保留了患者的遗传信息，使其成为研究疾病机制和开发新疗法的有价值的模型。

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.