Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Stem Cell Res. 2022 May;61:102730. doi: 10.1016/j.scr.2022.102730. Epub 2022 Feb 26.
CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2. In this study, we used CRISPR/Cas9 to generate isogenic human induced pluripotent stem cell lines with a gene-dosage dependent deficiency of CACNA1A. We obtained one clone with monoallelic (UCSFi001-A-60) and two clones with biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A. All three lines showed expression of pluripotency markers and a normal karyotype.
CACNA1A 编码 P/Q 型电压门控钙通道。该基因的杂合功能丧失变异与发作性共济失调 2 型有关。在这项研究中，我们使用 CRISPR/Cas9 技术生成了具有基因剂量依赖性 CACNA1A 缺陷的同源人诱导多能干细胞系。我们获得了一个单等位基因（UCSFi001-A-60）和两个双等位基因（UCSFi001-A-61；UCSFi001-A-62）的 CACNA1A 框移变异克隆。这三条线均表现出多能性标记物的表达和正常核型。
