通过CRISPR/Cas9编辑生成FMR1纯合敲除人类胚胎干细胞系（WAe009-A-16）。
Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing.
作者信息
Giri Subhajit, Purushottam Meera, Viswanath Biju, Muddashetty Ravi S
机构信息
Institute for Stem Cell Science and Regenerative Medicine (INSTEM), Bengaluru, India.
Molecular genetics and ADBS laboratory, Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
出版信息
Stem Cell Res. 2019 Aug;39:101494. doi: 10.1016/j.scr.2019.101494. Epub 2019 Jun 28.
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play important role in synaptic plasticity and translational regulation in neurons. We have generated a homozygous FMR1 knockout (FMR1-KO) hESC line using CRISPR/Cas9 based genome editing. It created a homozygous 280 nucleotide deletion at exon1, removing the start codon. This FMR1-KO cell line maintains stem cell like morphology, pluripotency, normal karyotype and ability to in-vitro differentiation.
FMR1基因的突变是脆性X综合征（FXS）的病因，是导致智力残疾和自闭症谱系障碍的主要遗传因素。FMR1基因编码脆性X智力低下蛋白（FMRP），它是一种RNA结合蛋白，在神经元的突触可塑性和翻译调控中发挥重要作用。我们使用基于CRISPR/Cas9的基因组编辑技术构建了一个纯合FMR1基因敲除（FMR1-KO）的人胚胎干细胞系。该技术在外显子1处造成了一个280个核苷酸的纯合缺失，去除了起始密码子。这个FMR1-KO细胞系保持了干细胞样的形态、多能性、正常核型以及体外分化能力。
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