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

Stem cell research - 1 Oct 2021

Lilianty Jinia, Bateman John F, Lamandé Shireen R

Abstract excerpt

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...

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Identifiers

PMID: 34543885
DOI: 10.1016/j.scr.2021.102515

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