Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.

This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.Val289fsTer22. The intron 2/3 variant (c.214-2 T > G) is a novel finding and is reported for the first time. These mutations are associated with profound alterations in protein structure and function. Employing patient-derived induced pluripotent stem cells (iPSCs), we have successfully generated a patient-specific model that exhibits the hallmarks of pluripotency, including typical stem cell morphology, expression of pluripotency markers, and a normal karyotype. The iPSCs are capable of differentiating into all three germ layers, underscoring their potential for regenerative medicine. The established iPSC line offers a promising platform for drug screening and regenerative medicine approaches for PH2.