Stem Cell Res. 2019 Oct 25;41:101622. doi: 10.1016/j.scr.2019.101622. [Epub ahead of print]

Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation.

Author information

1: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea.
2: Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
3: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea. Electronic address: mihyun4868@korea.kr.
4: Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, Republic of Korea. Electronic address: skkoo@korea.kr.

Abstract

Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones. OI type I is the most common and usually the mildest form. We generated human induced pluripotent stem cells (hiPSCs), KSCBi006-A, from the peripheral blood mononuclear cells of a patient with OI type I using the Sendai virus delivery method. The generated hiPSCs retained the disease-causing DNA mutation (COL1A1, c.3162delT) and showed a normal karyotype. KSCBi006-A also has pluripotency and the capacity for differentiation into the three germ layers. These patient-specific iPSCs provide a valuable cellular modeling platform for OI and a resource for drug screening.