Abstract
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.
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