使用 CRISPR/Cas9 技术从携带 NGLY1 基因纯合 p.R401X 突变的患者系（NCATS-CL6103）中生成两个基因校正的人同基因 iPSC 系（NCATS-CL6104 和 NCATS-CL6105）。
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9.
机构信息
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
出版信息
Stem Cell Res. 2021 Oct;56:102554. doi: 10.1016/j.scr.2021.102554. Epub 2021 Sep 30.
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that carried a homozygous p.R401X mutation in the NGLY1 gene. These lines contain either one (NCATS-CL6104) or two (NCATS-CL6105) CRISPR/Cas9 corrected alleles of NGLY1. This pair of NGLY1 mutation corrected iPSC lines can be used as a control for the NCATS-CL6103 which serves as a cell-based NGLY1 disease model for the study of the disease pathophysiology and evaluation of therapeutics under development.
NGLY1 缺乏症是一种罕见的隐性遗传疾病，由 NGLY1 基因的突变引起，该基因编码 N-糖基酶 1（NGLY1）。在这里，我们报告了使用携带 NGLY1 基因中纯合 p.R401X 突变的患者来源 iPSC 系（NCATS-CL6103）生成了两条基因校正的 iPSC 系。这些系包含一个（NCATS-CL6104）或两个（NCATS-CL6105）CRISPR/Cas9 校正的 NGLY1 等位基因。这对 NGLY1 突变校正的 iPSC 系可用作 NCATS-CL6103 的对照，NCATS-CL6103 作为一种基于细胞的 NGLY1 疾病模型，用于研究疾病的病理生理学和评估正在开发的治疗方法。
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