Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing

Abstract

The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. To produce an in vitro disease model, we generated a heterozygous patient mutation, COL2A1 p.G1113C, in an established control human induced pluripotent stem cell (iPSC) line, MCRIi019-A, using CRISPR-Cas9 gene editing. The gene-edited mutant line, MCRIi019-A-7, exhibited normal iPSC characteristics, including normal cell morphology, expression of pluripotency markers, the ability to differentiate into three embryonic germ layers, and normal karyotype. Together with its parental isogenic control, this cell line will be useful for Hypochondrogenesis disease modelling and drug testing.