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<p>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 <i>GRHPR</i> gene, specifically the intron2/3 c.214-2&#xa0;T &gt; G and the exon8 c.864-865delTG, leading to a premature stop codon at p.Val289fsTer22. The intron 2/3 variant (c.214-2&#xa0;T &gt; 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年1月6日

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  • Xiang Yan,
  • Zihao Xu,
  • Yue Chen,
  • Langping Gao,
  • Zige Jiang,
  • Lexin Liu,
  • Guozhen Wang,
  • Xiangjun Chen,
  • Chengpeng Wu,
  • Lidan Hu

摘要

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.