Generation of a COL1A2 homozygous knockout stem cell line via CRISPR/Cas9 system
Summary
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 Mar;59:102652 |
| PubMed | 34999419 |
| DOI | 10.1016/j.scr.2022.102652 |