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

• Published in: Stem cell research Vol. 41; p. 101622
• Main Authors: Kim, Bo-Young, Ko, Jung Min, Park, Mi-Hyun, Koo, Soo Kyung
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2019; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2019.101622

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.