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从四位 MECP2 突变的雷特综合征患者中生成人诱导多能干细胞系。

Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations.

机构信息

iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan; Department of Materials Science and Bioengineering, Nagaoka University of Technology, 1603-1 Kami-Tomioka, Nagaoka, Niigata 940-2188, Japan.

Department of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1, Inohana, Chuo-ku, Chiba-shi, Chiba, 260-0856, Japan.

出版信息

Stem Cell Res. 2024 Jun;77:103432. doi: 10.1016/j.scr.2024.103432. Epub 2024 May 1.

Abstract

Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett syndrome are generated from peripheral blood mononuclear cells using Sendai virus vectors. The generated hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift, missense, or nonsense mutations in the MECP2 gene. Since the molecular pathogenesis caused by MECP2 dysfunction remains unclear, these cell resources are useful tools to establish disease models and develop new therapies for Rett syndrome.

摘要

雷特综合征的特征是严重的全面发育障碍,伴有自闭症特征和目的性手部技能丧失。在这里,我们展示了使用 Sendai 病毒载体从四名日本雷特综合征女性患者的外周血单核细胞中产生的人类诱导多能干细胞 (hiPSC) 系。生成的 hiPSC 系表现出自更新和多能性,并携带 MECP2 基因的杂合框移突变、错义或无义突变。由于 MECP2 功能障碍引起的分子发病机制尚不清楚,这些细胞资源是建立疾病模型和开发雷特综合征新疗法的有用工具。

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