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

Autor:	Yammine KM; Department of Chemistry, Massachusetts Institute of Technology, United States., Mirda Abularach S; Department of Chemistry, Massachusetts Institute of Technology, United States., Sampurno L; Murdoch Children's Research Institute, Australia., Bateman JF; Murdoch Children's Research Institute, Australia; Department of Paediatrics, University of Melbourne, Australia., Lamandé SR; Murdoch Children's Research Institute, Australia; Department of Paediatrics, University of Melbourne, Australia., Shoulders MD; Department of Chemistry, Massachusetts Institute of Technology, United States. Electronic address: mshoulde@mit.edu.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2023 Mar; Vol. 67, pp. 103020. Date of Electronic Publication: 2023 Jan 06.
DOI:	10.1016/j.scr.2023.103020
Abstrakt:	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. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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