Journal article

CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A

Louise HW Kung, Lisa Sampurno, Kathryn M Yammine, Alison Graham, Penny McDonald, John F Bateman, Matthew D Shoulders, Shireen R Lamande

Stem Cell Research | ELSEVIER | Published : 2020


To develop an in vitro disease model of a human chondrodysplasia, we used CRISPR/Cas9 gene editing to generate a heterozygous COL2A1 exon 50 c.3508 GGT > TCA (p.G1170S) mutation in a control human iPSC line. Both the control and COL2A1 mutant lines displayed typical iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into endoderm, ectoderm and mesoderm lineages and normal karyotype. These chondrodysplasia mutant and isogenic control cell lines can be used to explore disease mechanisms underlying type II collagenopathies and aid in the discovery of new therapeutic strategies.


Awarded by National Health & Medical Research Council, Australia

Funding Acknowledgements

This study was funded by a research grant from The G. Harold and Leila Y. Mathers Foundation, National Health & Medical Research Council, Australia (GNT1146952, GNT1146902), and the Victorian Government`s Operational Infrastructure Support Program. The hiPSC line was generated from ATCC (R) CRL-1502 (TM) fibroblasts by the MCRI Gene Editing Core Facility, which is supported by the Stafford Fox Medical Research Foundation