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

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 expres...

Full description

Saved in:
Bibliographic Details
Published inStem cell research Vol. 67; p. 103020
Main Authors Yammine, Kathryn M., Mirda Abularach, Sophia, Sampurno, Lisa, Bateman, John F., Lamandé, Shireen R., Shoulders, Matthew D.
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.03.2023
Elsevier
Subjects
Collagen Type II - genetics
CRISPR-Cas Systems
Gene Editing
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation
Osteoarthritis - metabolism
Online AccessGet full text

Cover

More Information
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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103020