The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Production of Gene-Corrected Adult Beta Globin Protein in Human Erythrocytes Differentiated from Patient iPSCs After Genome Editing of the Sickle Point Mutation
Open accessAbstract
Human induced pluripotent stem cells (iPSCs) and genome editing provide a precise way to generate gene-corrected cells for disease modeling and cell therapies. Human iPSCs generated from sickle cell disease (SCD) patients have a homozygous missense point mutation in the HBB gene encoding adult β-globin proteins, and are used as a model system to improve strategies of human gene therapy. We demonstrate that the CRISPR/Cas9 system designer nuclease is much more efficient in stimulating gene targeting of the endogenous HBB locus near the SCD point mutation in human iPSCs than zinc finger nucleases and TALENs. Using a specific guide RNA and Cas9, we readily corrected one allele of the SCD HBB gene in human iPSCs by homologous recombination with a donor DNA template containing the wild-type HBB DNA and a selection cassette that was subsequently removed to avoid possible interference of HBB transcription and translation. We chose targeted iPSC clones that have one corrected and one disrupted SCD allele for erythroid differentiation assays, using an improved xeno-free and feeder-free culture condition we recently established. Erythrocytes from either the corrected or its parental (uncorrected) iPSC line were generated with similar efficiencies. Currently ∼6%–10% of these differentiated erythrocytes indeed lacked nuclei, characteristic of further matured erythrocytes called reticulocytes. We also detected the 16-kDa β-globin protein expressed from the corrected HBB allele in the erythrocytes differentiated from genome-edited iPSCs. Our results represent a significant step toward the clinical applications of genome editing using patient-derived iPSCs to generate disease-free cells for cell and gene therapies. Stem Cells 2015;33:1470–1479
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Cites
RNA-Guided Human Genome Engineering via Cas9
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Gene targeting using zinc finger nucleases
Porteus, M. H., & Carroll, D. (2005) · Nature Biotechnology · doi:10.1038/nbt1125 · Cited by 641
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Genome-editing Technologies for Gene and Cell Therapy
Maeder, M. L., & Gersbach, C. A. (2016) · Molecular Therapy · doi:10.1038/mt.2016.10 · Cited by 719
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Molecular basis of α-thalassemia
Farashi, S., & Harteveld, C. L. (2018) · Blood Cells, Molecules, and Diseases · doi:10.1016/j.bcmd.2017.09.004 · Cited by 227
Gene Therapy of the β-Hemoglobinopathies by Lentiviral Transfer of the β A(T87Q) - Globin Gene
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Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
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CRISPR/Cas9 for Sickle Cell Disease: Applications, Future Possibilities, and Challenges
Demirci, S., Leonard, A., Haro-Mora, J. J., Uchida, N., & Tisdale, J. F. (2019) · Advances in Experimental Medicine and Biology · doi:10.1007/5584_2018_331 · Cited by 50
Park, S., Gianotti-Sommer, A., Molina-Estevez, F. J., Vanuytsel, K., Skvir, N., Leung, A., Rozelle, S. S., Shaikho, E. M., Weir, I., Jiang, Z., et al. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.12.017 · Cited by 50
Curative options for sickle cell disease: haploidentical stem cell transplantation or gene therapy?
Leonard, A., Tisdale, J., & Abraham, A. (2020) · British Journal of Haematology · doi:10.1111/bjh.16437 · Cited by 45
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Metadata
- Authors
- Huang, X., Wang, Y., Yan, W., Smith, C., Ye, Z., Wang, J., Gao, Y., Mendelsohn, L., & Cheng, L.
- Venue
- Stem Cells
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-04-23
- Volume
- 33
- Issue
- 5
- Pages
- 1470-1479
- ISSN
- 1066-5099 (ISSN-L)
- 1549-4918
- OpenAlex
- W2101111741
- Cited by
- 190
- References
- 5
- FWCI
- 13.64
- Type
- journal article
- Language
- en
- Open access
- bronze
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