联合氧化磷酸化缺陷患者诱导多能干细胞系ISMMSi060-A的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2025-03-01 Epub Date: 2025-01-20 DOI:10.1016/j.scr.2025.103662

Sophia E. Salemi , Erdene Baljinnyam , Norman N. Liu , Ruiqi Hu , Samuele G. Marro , Bryn D. Webb

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引用次数: 0

摘要

我们描述了一种由甲硫基trna合成酶2基因（MARS2）双等位致病变异引起的新型线粒体疾病，现在称为联合氧化磷酸化缺陷25 （COXPD25）。本研究的重点是从COXPD25患者的成纤维细胞中产生和表征诱导多能干细胞（iPSCs）。由此产生的iPSC系ISMMSi060-A携带复合杂合变异体c.550C > T；p.Gln184*和c.424C > T；p.Arg142Trp在MARS2。iPSCs表现出正常的细胞形态、多能性标记物的表达、基因组的完整性和分化能力。

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Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25

We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (MARS2), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C > T; p.Gln184* and c.424C > T; p.Arg142Trp in MARS2. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.

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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.