从携带 C19orf12 基因 c.204_214del11 突变的 NBIA 亚型 MPAN 患者身上获得的四种人类诱导多能干细胞系。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-10-28 DOI:10.1016/j.scr.2024.103603

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引用次数: 0

摘要

脑铁积聚性神经变性（NBIA）是一组以脑铁积聚为特征的罕见神经变性疾病。线粒体膜蛋白相关神经变性（MPAN）是NBIA的一种亚型，由C19orf12基因的常染色体隐性突变引起。在这项工作中，我们从携带 C19orf12 基因同源突变 c.204_214del11、p.(Gly69Argfs*10) 的患者真皮成纤维细胞中产生了四系人类诱导多能干细胞（hiPSCs），并对其进行了鉴定。这种疾病的发病机制还不清楚，因此 hiPSC 细胞系将成为研究 NBIA-MPAN 神经变性的合适模型。

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Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an autosomal recessive mutation in the C19orf12 gene. In this work, we generated and characterized four lines of human induced pluripotent stem cell (hiPSCs) derived from dermal fibroblasts of patients carrying homozygous mutation c.204_214del11, p.(Gly69Argfs*10) in the C19orf12 gene. The mechanism of the disease is still far from clear, therefore the hiPSC cell lines will be a suitable model for studying NBIA-MPAN neurodegeneration.

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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.