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

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