Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation

Zhangqian Zheng; Wei Lu; Zhou Pei; Jun Chen; Tong Yang; Feihong Luo

doi:10.1016/j.scr.2020.101907

Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation

Stem Cell Res. 2020 Jul 5:47:101907. doi: 10.1016/j.scr.2020.101907. Online ahead of print.

Authors

Zhangqian Zheng¹, Wei Lu¹, Zhou Pei¹, Jun Chen², Tong Yang³, Feihong Luo⁴

Affiliations

¹ Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
² Shanghai Gemple Biotechnology Co, LTD, China.
³ Shanghai Gemple Biotechnology Co, LTD, China. Electronic address: tong.yang@gemple.com.cn.
⁴ Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China. Electronic address: luo_fh@163.com.

PMID: 32659730
DOI: 10.1016/j.scr.2020.101907

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.