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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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Citation

Zerui Wang, Yazhou Cui, Yongli Shan, Baoqiang Kang, Liang Shi, Kaiyue Geng, Jinxiang Han. Generation of a MCPH1 knockout human embryonic stem cell line by CRISPR/Cas9 technology. Stem cell research. 2020 Dec;49:102105

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PMID: 33370873

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