Wang Zerui, Cui Yazhou, Shan Yongli, Kang Baoqiang, Shi Liang, Geng Kaiyue, Han Jinxiang
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan 250062, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062, Shandong, China.
CAS Key Laboratory of Regenerative of Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
Stem Cell Res. 2020 Dec;49:102105. doi: 10.1016/j.scr.2020.102105. Epub 2020 Dec 2.
Human MCPH1 (Microcephalin 1) encodes a DNA damage response protein. Mutations in this gene have been associated with Primary Autosomal Recessive Microcephaly and premature chromosome condensation syndrome. To further understand the roles of MCPH1 in neural differentiation and brain development, here we generated a MCPH1 knockout human embryonic stem cell line by CRISPR/Cas9 genome editing technology. This cell line maintained a normal karyotype and typical undifferentiated state in terms of morphology, pluripotent gene expression, and had differentiation potential in vitro. This cell line provides a good resource to study the role of MCPH1 gene in neurogenesis and regulation of the size of the cerebral cortex in vitro.
人类MCPH1（小头畸形蛋白1）编码一种DNA损伤反应蛋白。该基因的突变与原发性常染色体隐性小头畸形和早熟染色体凝聚综合征有关。为了进一步了解MCPH1在神经分化和大脑发育中的作用，我们在此通过CRISPR/Cas9基因组编辑技术构建了一个MCPH1基因敲除的人类胚胎干细胞系。该细胞系在核型、形态、多能基因表达方面保持正常，且在体外具有分化潜能。该细胞系为体外研究MCPH1基因在神经发生和大脑皮质大小调控中的作用提供了良好资源。
