Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit

This isogenic iPSC line provides an ethically unconstrained platform to investigate PA molecular mechanisms and genotype-phenotype relationships. The model enables systematic drug screening and therapeutic development while overcoming patient sample limitations.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2026-01-23
DOI
https://doi.org/10.1186/s13023-026-04197-6
Primary Topic
Biotin and Related Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit

Zhenyao Liu, Yanyan Tang, Tonghe Wang, Zhang Guo-fang et al.
Orphanet Journal of Rare Diseases
Biotin and Related Studies
article

Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit

Zhenyao Liu, Yanyan Tang, Tonghe Wang, Zhang Guo-fang, Suhong Zhu, Liwen Lin, Jianli Wang, Tianqi Tao, You Wang, Xiaohang Hu, Yu Liu, Yongfang Xie
article en

Abstract

This isogenic iPSC line provides an ethically unconstrained platform to investigate PA molecular mechanisms and genotype-phenotype relationships. The model enables systematic drug screening and therapeutic development while overcoming patient sample limitations.

Orphanet Journal of Rare DiseasesVol. 21(1)
Duke University (US), Chinese PLA General Hospital (CN), Duke Medical Center (US), Affiliated Hospital of Jining Medical University (CN), Jining Medical University (CN)
Openalex Percentile: Top 82%
Biotin and Related Studies
DOIOpen Access PDFOpenAlex
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