Evidence map›Paper›PMID 39757298›Full record

ArticleHuman cell2025

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

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

Abstract read
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In one paragraph

Article in Human cell, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Xiang Yan *Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, China.
Zihao Xu *Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, China.
Yue Chen *Department of Urology, The Second Hospital of Tianjin Medical University, Tianjin Institute of Urology, Tianjin, 300211, China.
Langping GaoDepartment of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310003, China.
Zige JiangDepartment of Urology, The Second Hospital of Tianjin Medical University, Tianjin Institute of Urology, Tianjin, 300211, China.
Lexin LiuDepartment of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, China.
Guozhen WangSchool of Basic Medical Sciences and Forensic Medicine, Hangzhou Medical College, Hangzhou, 311399, China.
Xiangjun ChenInstitute of Translational Medicine, Zhejiang University School of Medicine, 268 Kaixuan Road, Hangzhou, 310020, China.
Chengpeng WuLiangzhu Laboratory, Zhejiang University, Hangzhou, 311121, China. wuchengpeng@zju.edu.cn.
Lidan HuChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, 310052, China. hulidan@zju.edu.cn.ORCID http://orcid.org/0000-0002-1145-2745

Funding

Key Research and Development Program of Zhejiang Province 2023C03027National Natural Science Foundation of China 82200784National Natural Science Foundation of China 82273014
6 · The paper itself

Abstract

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.

Indexed as

Hyperoxaluria, PrimaryInduced Pluripotent Stem CellsMutationCell DifferentiationCell LineCodon, NonsenseHumansIntronsMalePHEX Phosphate Regulating Neutral EndopeptidaseCodon, NonsensePHEX Phosphate Regulating Neutral EndopeptidaseCalcium oxalate stonesDisease modelingGRHPR geneInduced pluripotent stem cellsPrimary hyperoxaluria type 2

Identifiers

PMID39757298

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.