Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing


To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This iPSC line and the isogenic parental iPSC line will be of use in exploring osteogenesis imperfecta disease mechanisms and therapeutic approaches in vitro. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Hosseini Far H, Patria YN, Motazedian A, Elefanty AG, Stanley EG, Lamandé SR, Bateman JF
Journal Stem cell research
Publication Date 2019 May;37:101449
PubMed 31075690
DOI 10.1016/j.scr.2019.101449

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