利用 CRISPR/Cas9 从 iPSC 生成杂合和纯合 CSF1R 敲除系。

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.

机构信息

Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.

出版信息

Stem Cell Res. 2023 Jun;69:103066. doi: 10.1016/j.scr.2023.103066. Epub 2023 Mar 11.

DOI:10.1016/j.scr.2023.103066

PMID:36947995

Abstract

Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with severe cognitive and motor impairment. In this study, a homozygous and a heterozygous CSF1R knockout induced pluripotent stem cell (iPSC) line were generated by CRISPR/Cas9-based gene editing. These in vitro models will provide a helpful tool for investigating the still largely unknown pathophysiology of CSF1R-related leukoencephalopathy.

摘要

集落刺激因子 1 受体 (CSF1R) 突变导致 CSF1R 相关脑白质病，也称为成人发病伴轴索性球形细胞和色素性神经胶质病（ALSP），这是一种快速进展的神经退行性疾病，伴有严重的认知和运动障碍。在这项研究中，通过 CRISPR/Cas9 基因编辑生成了纯合和杂合 CSF1R 敲除诱导多能干细胞 (iPSC) 系。这些体外模型将为研究 CSF1R 相关脑白质病的病理生理学提供有用的工具，目前这方面的知识仍在很大程度上未知。