从一名携带 LZTR1 基因突变的女性患者体内生成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 : 2024-11-19 DOI:10.1016/j.scr.2024.103616

Jinghua Ruan , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , Qiang Shu

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引用次数: 0

摘要

据报道，亮氨酸拉链样转录调节因子 1（LZTR1）基因与多种人类疾病有关，包括心脏病、努南综合征和裂隙性神经瘤病。本研究成功地将来自扩张型心肌病（DCM）患者的外周血单核细胞（PBMCs）重编程为人类诱导多能干细胞（iPSCs）系，其中LZTR1基因存在明显的杂合突变。已建立的患者衍生 iPSCs 表达了内源性多能性标记，显示出分化为三个胚层（内胚层、中胚层和外胚层）的潜力，并表现出正常的核型。

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Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation

The leucine zipper–like transcriptional regulator 1 (LZTR1) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.

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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.