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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Kim BY, Ko JM, Park MH, Koo SK
Journal Stem cell research
Publication Date 2019 Dec;41:101622
PubMed 31715426
DOI 10.1016/j.scr.2019.101622

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