Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient


Osteogenesis imperfecta (OI) is a group of genetic disorders characterized mainly by fractures and bone deformities. It has been established that gene mutations, particularly those in COL1A1 and COL1A2, account for most phenotypes. Here, we generated an induced pluripotent stem cells (iPSCs) line named SMBCi014-A using urine cells (UCs) derived from a 15-year-old female OI type I patient who carried the frame-shift mutation of the COL1A1 gene (exon35:c.2450delC:p.P817fs). The patient had a family history of mild fractures and a blue sclera. Therefore, our study established a patient-derived site-specific cellular model of OI to better understand the osteogenic mechanism. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Luan J, Cui Y, Wang J, Liang Y, Zhao Y, Zhang G, Han J
Journal Stem cell research
Publication Date 2022 Jul;62:102827
PubMed 35660813
DOI 10.1016/j.scr.2022.102827

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