Establishment of human induced pluripotent stem cell lines and isogenic gene-corrected controls from three patients with prolidase deficiency
Year: 2026
Type: article
Abstract: Prolidase deficiency is an autosomal recessive inborn error of metabolism caused by pathogenic variants in the PEPD gene. To date, close to 200 patients have been reported worldwide with a poorly understood pathomechanism. The PEPD gene encodes an enzyme that is involved in the final steps of collagen degradation. Urine amino acid analysis or specific dipeptide analysis can establish the biochemical diagnosis. In this study, we reprogrammed peripheral blood mononuclear cells (PBMCs) from three prolidase deficient patients into induced pluripotent stem cell (iPSC) lines and additionally generated isogenic controls using CRISPR-Cas9 genome editing. The pathogenic PEPD variants identified in our patients were NP_000276.2:p.? (NIHTVBi032-A), NP_000276.2:p.(Ile415Asn)/NP_000276.2:p.(Trp326Ter) (NIHTVBi033-A), and NP_000276.2:p.(Arg265Ter) (NIHTVBi034-A). These iPSC lines are valuable models to help investigate the pathomechanism of prolidase deficiency.
Source: Stem Cell Research
Authors: Reecha Suri, Kevin Emmerich, Sahana Manohar-Sindhu, Elyse MacCall, Rebecca L Harper, Robin Schwartzbeck, Rebecca Huffstutler, Elisa Ferrante, Xuming Tang, Dan Yang, Natalia I Dmitrieva, Yongshun Lin, Jizhong Zou, Carlos R Ferreira, Ivona Aksentijevich, Alexandra F Freeman, Alessandra Brofferio, Cornelia Cudrici, Manfred Boehm
Institutions: National Institutes of Health, University of Kentucky, National Heart, Lung, and Blood Institute, Baker Heart and Diabetes Institute, The University of Melbourne, La Trobe University, Monash University, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institute of Allergy and Infectious Diseases
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
OpenAlex ID: W7204159068