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 na...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122001763 |
| _version_ | 1828327989631254528 |
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| author | Jing Luan Yazhou Cui Jing Wang Yanchen Liang Yanan Zhao Genglin Zhang Jinxiang Han |
| author_facet | Jing Luan Yazhou Cui Jing Wang Yanchen Liang Yanan Zhao Genglin Zhang Jinxiang Han |
| author_sort | Jing Luan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T20:03:37Z |
| format | Article |
| id | doaj.art-03b6f47ae24e4d8a8aa99b812fcf4736 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T20:03:37Z |
| publishDate | 2022-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-03b6f47ae24e4d8a8aa99b812fcf47362022-12-22T02:32:07ZengElsevierStem Cell Research1873-50612022-07-0162102827Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patientJing Luan0Yazhou Cui1Jing Wang2Yanchen Liang3Yanan Zhao4Genglin Zhang5Jinxiang Han6School 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, ChinaDepartment 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, ChinaDepartment 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, ChinaDepartment of Orthopaedics, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Ji'nan, Shandong, ChinaDepartment 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, ChinaDepartment 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, ChinaDepartment 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.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.http://www.sciencedirect.com/science/article/pii/S1873506122001763 |
| spellingShingle | Jing Luan Yazhou Cui Jing Wang Yanchen Liang Yanan Zhao Genglin Zhang Jinxiang Han Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient Stem Cell Research |
| title | Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient |
| title_full | Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient |
| title_fullStr | Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient |
| title_full_unstemmed | Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient |
| title_short | Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient |
| title_sort | generation of a non integrated induced pluripotent stem cell line from urine cells of a chinese osteogenesis imperfecta type i patient |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122001763 |
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