ArticleAmerican journal of human genetics2012
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies.British journal of haematology · 2026Review
- Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.Stem cell reports · 2020Article
- Congenital erythropoietic porphyria: Recent advances.Molecular genetics and metabolism · 2019Review
- CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.Nature communications · 2019Article
- Preventing Pluripotent Cell Teratoma in Regenerative Medicine Applied to Hematology Disorders.Stem cells translational medicine · 2017Article
- Effect of tyrosine kinase inhibitors on stemness in normal and chronic myeloid leukemia cells.Leukemia · 2017Article
- Anemia: progress in molecular mechanisms and therapies.Nature medicine · 2015Review
- New frontier in regenerative medicine: site-specific gene correction in patient-specific induced pluripotent stem cells.Human gene therapy · 2013Review
- Modelling human disease with pluripotent stem cells.Current gene therapy · 2013Review
- Variable behavior of iPSCs derived from CML patients for response to TKI and hematopoietic differentiation.PloS one · 2013Article
Corrections and comments
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Authors and funding
16 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital erythropoietic porphyria (CEP) is due to a deficiency in the enzymatic activity of uroporphyrinogen III synthase (UROS); such a deficiency leads to porphyrin accumulation and results in skin lesions and hemolytic anemia. CEP is a candidate for retrolentivirus-mediated gene therapy, but recent reports of insertional leukemogenesis underscore the need for safer methods. The discovery of induced pluripotent stem cells (iPSCs) has opened up new horizons in gene therapy because it might overcome the difficulty of obtaining sufficient amounts of autologous hematopoietic stem cells for transplantation and the risk of genotoxicity. In this study, we isolated keratinocytes from a CEP-affected individual and generated iPSCs with two excisable lentiviral vectors. Gene correction of CEP-derived iPSCs was obtained by lentiviral transduction of a therapeutic vector containing UROS cDNA under the control of an erythroid-specific promoter shielded by insulators. One iPSC clone, free of reprogramming genes, was obtained with a single proviral integration of the therapeutic vector in a genomic safe region. Metabolic correction of erythroblasts derived from iPSC clones was demonstrated by the disappearance of fluorocytes. This study reports the feasibility of porphyria gene therapy with the use of iPSCs.
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