The induced pluripotent stem cells (iPSCs) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with compound heterozygous mutation of c.2374A > G/p.M792V and c.3949C > T/p.R1317W in the CPS1 gene by non-integrating vectors. The expression of pluripotency markers, potential for in vitro trilineage differentiation and exhibiting normal karyotype were demonstrated in the SDQLCHi061-A cell line. This cell line could provide a useful CPS1D model in vitro for further study.

中文翻译：

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从因 CPS1 突变导致氨基甲酰磷酸合成酶 I 缺乏的患者中建立 iPS 细胞系 (SDQLCHi061-A)

使用 CPS1 基因中具有 c.2374A > G/p.M792V 和 c.3949C > T/p.R1317W 复合杂合突变的患者的外周血单核细胞 (PBMC) 生成诱导多能干细胞 (iPSC) 系通过非积分向量。 SDQLCHi061-A 细胞系中证实了多能性标记的表达、体外三系分化的潜力以及表现出正常的核型。该细胞系可以为进一步研究提供有用的 CPS1D 体外模型。