ArticleStem cell reports2015
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Article in Stem cell reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2019Trial
- Advances in the characterization of in vitro-generated red blood cells: from biophysical properties to functional applications.Stem cell research & therapy · 2025Review
- Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.Frontiers in genome editing · 2023Article
- Review
- Gene Editing for Inherited Red Blood Cell Diseases.Frontiers in physiology · 2022Review
- Inborn errors of metabolism: Lessons from iPSC models.Reviews in endocrine & metabolic disorders · 2021Review
- Review
- Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.Molecular therapy. Methods & clinical development · 2021Article
- Targeted gene therapy into a safe harbor site in human hematopoietic progenitor cells.Gene therapy · 2020Article
- Establishment of microRNA, transcript and protein regulatory networks in Alport syndrome induced pluripotent stem cells.Molecular medicine reports · 2019Article
- Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA.PloS one · 2019Article
- Modeling rare diseases with induced pluripotent stem cell technology.Molecular and cellular probes · 2018Review
- AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.Blood · 2017Article
- A history of genome editing in mammals.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Review
- Therapeutic gene editing: delivery and regulatory perspectives.Acta pharmacologica Sinica · 2017Review
- Review
- Emerging cellular and gene therapies for congenital anemias.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Review
- High-Efficiency Serum-Free Feeder-Free Erythroid Differentiation of Human Pluripotent Stem Cells Using Small Molecules.Stem cells translational medicine · 2016Article
- Gene correction in patient-specific iPSCs for therapy development and disease modeling.Human genetics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 12 institutions in 6 countries.
Funding
Abstract
Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. Erythrocytes from PKD patients show an energetic imbalance causing chronic non-spherocytic hemolytic anemia, as pyruvate kinase defects impair ATP production in erythrocytes. We generated PKD induced pluripotent stem cells (PKDiPSCs) from peripheral blood mononuclear cells (PB-MNCs) of PKD patients by non-integrative Sendai viral vectors. PKDiPSCs were gene edited to integrate a partial codon-optimized R-type pyruvate kinase cDNA in the second intron of the PKLR gene by TALEN-mediated homologous recombination (HR). Notably, we found allele specificity of HR led by the presence of a single-nucleotide polymorphism. High numbers of erythroid cells derived from gene-edited PKDiPSCs showed correction of the energetic imbalance, providing an approach to correct metabolic erythroid diseases and demonstrating the practicality of this approach to generate the large cell numbers required for comprehensive biochemical and metabolic erythroid analyses.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.