Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, was generated from peripheral blood mononuclear cells (PBMCs) of a 5-year-old female patient with OI, who had a heterozygous (c.928G > A:p.G328S) mutation in the COL1A2 gene, using non-integrating episomal vector technique. CHFUi001-A offers a useful resource to investigate pathogenic mechanisms in OI, as well as a cell-based model for drug development to treat OI.

成骨不全症 (OI) 是一种罕见的常染色体显性代谢紊乱，由COL1A1或COL1A2基因杂合突变引起，这些基因分别编码 I 型前胶原的 pro-α1(I) 和 pro-α2(I) 链。人类诱导多能干细胞 (iPSC) 系，称为 CHFUi001-A，是从一名 5 岁 OI 女性患者的外周血单核细胞 (PBMC) 中产生的，该患者具有杂合子 (c.928G > A: p.G328S) COL1A2基因突变，使用非整合附加型载体技术。 CHFUi001-A 为研究成骨不全症的致病机制提供了有用的资源，并为治疗成骨不全症的药物开发提供了基于细胞的模型。