{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:35:53Z","timestamp":1790847353781,"version":"4.1.0"},"reference-count":48,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2019R1A5A2027588"],"award-info":[{"award-number":["2019R1A5A2027588"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2020R1A2C3004123"],"award-info":[{"award-number":["2020R1A2C3004123"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Research Foundation of Korea (NRF) funded by the Ministry of Education","award":["2019R1I1A1A01060753"],"award-info":[{"award-number":["2019R1I1A1A01060753"]}]},{"name":"National Research Foundation of Korea (NRF) funded by the Ministry of Education","award":["2019R1I1A1A01062060"],"award-info":[{"award-number":["2019R1I1A1A01062060"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and repeated fractures. The bone fragility associated with OI is caused by a defect in collagen formation due to mutation of COL1A1 or COL1A2. Current strategies for treating OI are not curative. In this study, we generated induced pluripotent stem cells (iPSCs) from OI patient-derived blood cells harboring a mutation in the COL1A1 gene. Osteoblast (OB) differentiated from OI-iPSCs showed abnormally decreased levels of type I collagen and osteogenic differentiation ability. Gene correction of the COL1A1 gene using CRISPR\/Cas9 recovered the decreased type I collagen expression in OBs differentiated from OI-iPSCs. The osteogenic potential of OI-iPSCs was also recovered by the gene correction. This study suggests a new possibility of treatment and in vitro disease modeling using patient-derived iPSCs and gene editing with CRISPR\/Cas9.<\/jats:p>","DOI":"10.3390\/jcm10143141","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T10:52:58Z","timestamp":1626432778000},"page":"3141","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Restoration of Osteogenesis by CRISPR\/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta"],"prefix":"10.3390","volume":"10","author":[{"given":"Hyerin","family":"Jung","sequence":"first","affiliation":[{"name":"CiSTEM Laboratory, Convergent Research Consortium for Immunologic Disease, College of Medicine, Seoul St. Mary\u2019s Hospital, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea"},{"name":"Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, Seoul 137-701, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9541-3075","authenticated-orcid":false,"given":"Yeri Alice","family":"Rim","sequence":"additional","affiliation":[{"name":"CiSTEM Laboratory, Convergent Research Consortium for Immunologic Disease, College of Medicine, Seoul St. Mary\u2019s Hospital, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea"},{"name":"Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, Seoul 137-701, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narae","family":"Park","sequence":"additional","affiliation":[{"name":"CiSTEM Laboratory, Convergent Research Consortium for Immunologic Disease, College of Medicine, Seoul St. Mary\u2019s Hospital, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea"},{"name":"Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, Seoul 137-701, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoojun","family":"Nam","sequence":"additional","affiliation":[{"name":"YiPSCELL, Inc., 39 Banpo-daero, Seocho-gu, Seoul 06579, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1381-5466","authenticated-orcid":false,"given":"Ji Hyeon","family":"Ju","sequence":"additional","affiliation":[{"name":"CiSTEM Laboratory, Convergent Research Consortium for Immunologic Disease, College of Medicine, Seoul St. Mary\u2019s Hospital, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea"},{"name":"Catholic iPSC Research Center, College of Medicine, The Catholic University of Korea, Seoul 137-701, Korea"},{"name":"YiPSCELL, Inc., 39 Banpo-daero, Seocho-gu, Seoul 06579, Korea"},{"name":"Divison of Rheumatology, Department of Internal Medicine, College of Medicine, Seoul St. Mary\u2019s Hospital, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06281, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.18388\/abp.2002_3802","article-title":"Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans","volume":"49","year":"2002","journal-title":"Acta Biochim. 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