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

• Published in: Stem cell research Vol. 48; p. 101962
• Main Authors: Kung, Louise H.W., Sampurno, Lisa, Yammine, Kathryn M., Graham, Alison, McDonald, Penny, Bateman, John F., Shoulders, Matthew D., Lamandé, Shireen R.
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.10.2020; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2020.101962

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.