Generation of a homozygous P4HA2 knockout human embryonic stem cell line (FDCHDPe012-A) by CRISPR/Cas9 system.

Prolyl 4-hydroxylase subunit alpha-2(P4HA2) is associated with autosomal dominant high myopia. A significant reduction of P4HA2 protein expression has been observed in fibroblast cells of high myopia patients with inherited P4HA2 mutations. To explore the function of P4HA2 in cases of high myopia, we generated a P4HA2-KO hES cell line (FDCHDPe012-A) efficiently through CRISPR/Cas9 system. We confirmed the presence of a 5-bp biallelic deletion, causing a frameshift and premature P4HA2 translation termination. The FDCHDPe012-A presented morphology of typical stem cells expressed pluripotent genes, possessed a normal parental karyotype, and could differentiate into three germ layers.