使用 CRISPR/Cas9 技术生成携带神经发育障碍相关黏附蛋白 13 杂合子（UKWMPi002-A-1）和无功能突变敲除（UKWMPi002-A-2）的诱导多能干细胞（iPSC）系。
Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9.
机构信息
Division of Molecular Psychiatry, Center of Mental Health, University Hospital Würzburg, Germany; Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, I.M Sechenov First Moscow State Medical University, Moscow, Russia.
Division of Molecular Psychiatry, Center of Mental Health, University Hospital Würzburg, Germany; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Maastricht University, Maastricht, The Netherlands.
出版信息
Stem Cell Res. 2021 Mar;51:102169. doi: 10.1016/j.scr.2021.102169. Epub 2021 Jan 11.
Fibroblasts isolated from a skin biopsy of a healthy 46-year-old female were infected with Sendai virus containing the Yamanaka factors to produce transgene-free human induced pluripotent stem cells (iPSCs). CRISPR/Cas9 was used to generate isogenic cell lines with a gene dose-dependent deficiency of CDH13, a risk gene associated with neurodevelopmental and psychiatric disorders. Thereby, a heterozygous CDH13 knockout (CDH13) and a CDH13 null mutant (CDH13) iPSC line was obtained. All three lines showed expression of pluripotency-associated markers, the ability to differentiate into cells of the three germ layers in vitro, and a normal female karyotype.
从一位 46 岁健康女性的皮肤活组织检查中分离出的成纤维细胞被感染了含有山中因子的仙台病毒，以产生无转基因的人诱导多能干细胞（iPSC）。CRISPR/Cas9 用于生成具有 CDH13 基因剂量依赖性缺陷的同基因细胞系，CDH13 是与神经发育和精神疾病相关的风险基因。从而获得了杂合 CDH13 敲除（CDH13）和 CDH13 缺失突变体（CDH13）iPSC 系。这三个系均表现出多能性相关标志物的表达、体外分化为三个胚层细胞的能力以及正常的女性核型。
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