Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis
Summary
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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Yammine KM, Mirda Abularach S, Sampurno L, Bateman JF, Lamandé SR, Shoulders MD |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Mar;67:103020 |
| PubMed | 36682125 |
| PubMed Central | PMC10038005 |
| DOI | 10.1016/j.scr.2023.103020 |