Journal article
Generation of a heterozygous COL1A1 (c.3969_3970insT)osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing
H Hosseini Far, YN Patria, A Motazedian, AG Elefanty, EG Stanley, SR Lamandé, JF Bateman
Stem Cell Research | ELSEVIER | Published : 2019
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.
Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
This study was funded by an Australian National Health & Medical Research Council project grant (GNT1146952), the Victorian Government's Operational Infrastructure Support Program, Melbourne International Research Scholarship, Melbourne International Fee Remission Scholarship and Murdoch Children's Research Institute PhD Top Up Scholarship.