患者来源的iPSC系CSSi022-A（15666）的产生和特性，该系具有致病性MFN2突变，可导致2A型沙科-玛丽-图斯病

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-23 DOI:10.1016/j.scr.2025.103817

Angela Maria Giada Giovenale , Ilaria Ferrone , Silvia Tomaselli , Martina Mazzoni , Giorgia Ruotolo , Elisa Maria Turco , Barbara Torres , Alessandro De Luca , Paola Zanfardino , Edvige Vulcano , Daniela Ferrari , Devid Damiani , Filippo M. Santorelli , Maria Pennuto , Angelo Luigi Vescovi , Vittoria Petruzzella , Jessica Rosati

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引用次数: 0

摘要

Charcot-Marie-Tooth病2A型（CMT2A; OMIM 609260）是一种罕见的由MFN2基因突变引起的感觉运动神经病变（1p36.22）。我们使用非整合载体成功地将携带新生MFN2突变的8岁女孩的成纤维细胞重编程为诱导多能干细胞。该细胞系表现出正常的核型、多能性和三龄分化，为研究疾病机制提供了有价值的体外模型。

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Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A

Charcot-Marie-Tooth disease type 2A (CMT2A; OMIM 609260) is a rare sensorimotor neuropathy caused by mutations in the MFN2 gene (1p36.22). We successfully reprogrammed fibroblasts from an 8-year-old girl carrying a de novo MFN2 mutation into induced pluripotent stem cells using non-integrative vectors. The line shows normal karyotype, pluripotency, and trilineage differentiation, providing a valuable in vitro model to study disease mechanisms.

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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.