Generation of a COL1A2 homozygous knockout stem cell line via CRISPR/Cas9 system


The loss of function of the COL1A2 gene can result in osteogenesis imperfecta (OI) types I, II, III, and IV and Ehlers-Danlos syndrome (cardiac valvular and arthrochalasia type).To further investigate the significance of COL1A2 in osteogenesis imperfecta and cardiac valve disease, we created a homozygous COL1A2-/- human embryonic stem cell line (WAe009-A-72) using CRISPR/Cas9. In vivo, the WAe009-A-72 cell line retained typical colony form, a normal karyotype, and robustly expressed pluripotency markers while differentiating into all three germ layers. This cell line is a potential tool for investigating the role of the COL1A2 gene in associated disorders. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ma S, Saleem A, Li X, Lu WJ, Jiang H
Journal Stem cell research
Publication Date 2022 Jan 3;59:102652
PubMed 34999419
DOI 10.1016/j.scr.2022.102652

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