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Stem Cell Res. 2019 Apr 23;37:101449. doi: 10.1016/j.scr.2019.101449. [Epub ahead of print]

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

Author information

1
Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia.
2
Murdoch Children's Research Institute, University of Melbourne, Australia.
3
Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia; Department of Anatomy and Developmental Biology, Monash University, Australia.
4
Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Biochemistry and Molecular Biology, University of Melbourne, Australia. Electronic address: john.bateman@mcri.edu.au.

Abstract

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.

PMID:
31075690
DOI:
10.1016/j.scr.2019.101449
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