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

Jing Luan; Yazhou Cui; Jing Wang; Yanchen Liang; Yanan Zhao; Genglin Zhang; Jinxiang Han

Stem Cell Research (Jul 2022)

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

Jing Luan,
Yazhou Cui,
Jing Wang,
Yanchen Liang,
Yanan Zhao,
Genglin Zhang,
Jinxiang Han

Affiliations

Jing Luan: School of Traditional Chinese Medicine, Shandong University of Traditional Chinese Medicine, Ji’nan, Shandong, China; Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji’nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji’nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China
Yazhou Cui: Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji’nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji’nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China
Jing Wang: Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji’nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji’nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China
Yanchen Liang: Department of Orthopaedics, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Ji'nan, Shandong, China
Yanan Zhao: Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji’nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji’nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China
Genglin Zhang: Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji’nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji’nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China
Jinxiang Han: Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji’nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji’nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China; Corresponding author at: Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan, Shandong, China.

Journal volume & issue: Vol. 62
p. 102827

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal