Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis

Stem Cell Res. 2023 Mar:67:103020. doi: 10.1016/j.scr.2023.103020. Epub 2023 Jan 6.

Abstract

The human iPSC line MCRIi019-A-6 was generated using CRISPR/Cas9-mediated gene editing to introduce a heterozygous COL2A1 exon 33 c.2155C>T (p.R719C) mutation into the control human iPSC line MCRIi019-A. Both the edited and parental lines display typical iPSC characteristics, including the expression of pluripotency markers, the ability to be differentiated into the three germ lines, and a normal karyotype. This cell line, along with the isogenic control line, can be used to study the molecular pathology of precocious osteoarthritis in a human model, more broadly understand type II collagenopathies, and explore novel therapeutic targets for this class of diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • CRISPR-Cas Systems
  • Collagen Type II / genetics
  • Gene Editing
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation
  • Osteoarthritis* / metabolism

Substances

  • COL2A1 protein, human
  • Collagen Type II