Abstract
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.
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