Journal article

The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G > T iPSC line and an isogenic control iPSC line

Sara Howden, Hani Hosseini Far, Ali Motazedian, Andrew G Elefanty, Edouard G Stanley, Shireen R Lamande, John F Bateman

Stem Cell Research | ELSEVIER | Published : 2019


To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we used a simultaneous reprogramming and CRISPR-Cas9 genome editing method to produce an iPSC line with the heterozygous patient mutation (COL1A1 c. 3936 G>T) along with an isogenic gene-corrected control iPSC line. Both IPSC lines had a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. This osteogenesis imperfecta mutant and isogenic iPSC control line will be of use in exploring disease mechanisms and therapeutic approaches in vitro.


Awarded by Australian National Health & 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 (HHF), Melbourne International Fee Remission Scholarship and Murdoch Children's Research Institute PhD Top Up Scholarship.