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

Hani Hosseini Far; Yudha Nur Patria; Ali Motazedian; Andrew G. Elefanty; Edouard G. Stanley; Shireen R. Lamandé; John F. Bateman

Stem Cell Research (May 2019)

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

Hani Hosseini Far,
Yudha Nur Patria,
Ali Motazedian,
Andrew G. Elefanty,
Edouard G. Stanley,
Shireen R. Lamandé,
John F. Bateman

Affiliations

Hani Hosseini Far: Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia
Yudha Nur Patria: Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia
Ali Motazedian: Murdoch Children's Research Institute, University of Melbourne, Australia
Andrew G. Elefanty: 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
Edouard G. Stanley: 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
Shireen R. Lamandé: Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia
John F. Bateman: Murdoch Children's Research Institute, University of Melbourne, Australia; Department of Biochemistry and Molecular Biology, University of Melbourne, Australia; Corresponding author at: Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria 3052, Australia.

Journal volume & issue: Vol. 37

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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