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CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells
Open accessAbstract
The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene correction in patient-derived haematopoietic stem cells followed by autologous transplantation could be used to cure β-haemoglobinopathies. Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the HBB gene in haematopoietic stem cells. Notably, we devise an enrichment model to purify a population of haematopoietic stem and progenitor cells with more than 90% targeted integration. We also show efficient correction of the Glu6Val mutation responsible for sickle cell disease by using patient-derived stem and progenitor cells that, after differentiation into erythrocytes, express adult β-globin (HbA) messenger RNA, which confirms intact transcriptional regulation of edited HBB alleles. Collectively, these preclinical studies outline a CRISPR-based methodology for targeting haematopoietic stem cells by homologous recombination at the HBB locus to advance the development of next-generation therapies for β-haemoglobinopathies.
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“Accordingly, several reports have shown efficient Glu6Val correction in SCD-HSPCs, although correction efficiency can sometimes be linked with off-target INDELs in the same edited population15,16,45,46.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“RNP delivery results in an initially high level of the genome editing machinery followed by rapid decay, leading to a “fast on, fast off” strategy that results in highly efficient editing while minimizing OTEs13–19.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“AAV6 homologous donor DNA templates are an efficient way to deliver donor templates for sensitive primary immune cells, including HSPCs and T-Cells15,35–40.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“Recent studies have shown that disease-causing genetic errors can be corrected using CRISPR/Cas9 in long-term engrafting HSPCs that are preserved in downstream effector lineages15,16,24,25.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“Major progress in delivering to 44 and handling HPSCs has resulted in formidable efficiencies of mutation correction or mitigation 18,45-47 that are expected to be curative.”
From The promise and challenge of therapeutic genome editing (2020) · cites this paper as [45]
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“Furthermore, CRISPR/Cas9 system holds tremendous promise for gene therapy [46–51]. It can correct causal mutations in the original genome and rescue the disease phenotypes of monogenic disorders permanently, which currently represents the most translatable field in CRISPR/Cas9-mediated disease therapy.”
From Non-viral delivery systems for CRISPR/Cas9-based genome editing: challenges and opportunities (2018) · cites this paper as [49]
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Cites
A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity
Jinek, M., Chylinski, K., Fonfara, I., Hauer, M., Doudna, J. A., & Charpentier, E. (2012) · Science · doi:10.1126/science.1225829 · Cited by 17,116
The new frontier of genome engineering with CRISPR-Cas9
Doudna, J. A., & Charpentier, E. (2014) · Science · doi:10.1126/science.1258096 · Cited by 7,062
Development and Applications of CRISPR-Cas9 for Genome Engineering
Hsu, P. D., Lander, E. S., & Zhang, F. (2014) · Cell · doi:10.1016/j.cell.2014.05.010 · Cited by 5,762
Easy quantitative assessment of genome editing by sequence trace decomposition
Brinkman, E. K., Chen, T., Amendola, M., & van Steensel, B. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku936 · Cited by 2,390
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
Cavazzana-Calvo, M., Payen, E., Negre, O., Wang, G., Hehir, K., Fusil, F., Down, J., Denaro, M., Brady, T., Westerman, K., et al. (2010) · Nature · doi:10.1038/nature09328 · Cited by 1,276
Gene therapy returns to centre stage
Naldini, L. (2015) · Nature · doi:10.1038/nature15818 · Cited by 1,184
HSV-TK Gene Transfer into Donor Lymphocytes for Control of Allogeneic Graft-Versus-Leukemia
Bonini, C., Ferrari, G., Verzeletti, S., Servida, P., Zappone, E., Ruggieri, L., Ponzoni, M., Rossini, S., Mavilio, F., Traversari, C., et al. (1997) · Science · doi:10.1126/science.276.5319.1719 · Cited by 1,158
Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cells
Hendel, A., Bak, R. O., Clark, J. T., Kennedy, A. B., Ryan, D. E., Roy, S., Steinfeld, I., Lunstad, B. D., Kaiser, R. J., Wilkens, A. B., et al. (2015) · Nature Biotechnology · doi:10.1038/nbt.3290 · Cited by 1,090
Self-citationIsolation of a candidate human hematopoietic stem-cell population.
Baum, C. M., Weissman, I. L., Tsukamoto, A. S., Buckle, A., & Péault, B. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.7.2804 · Cited by 1,084
Hematopoietic stem cell: self‐renewal versus differentiation
Seita, J., & Weissman, I. L. (2010) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.86 · Cited by 997
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Wu, W.-H., Tsai, Y.-T., Huang, I.-W., Cheng, C.-H., Hsu, C., Cui, X., Ryu, J., Quinn, P. M. J., Caruso, S. M., Lin, C., et al. (2022) · Molecular Therapy · doi:10.1016/j.ymthe.2022.02.010 · Cited by 35
Zhang, K., Wan, P., Wang, L., Wang, Z., Tan, F., Li, J., Ma, X., Cen, J., Yuan, X., Liu, Y., et al. (2024) · Cell stem cell · doi:10.1016/j.stem.2024.04.022 · Cited by 36
Synthetic Vehicles for Encapsulation and Delivery of CRISPR/Cas9 Gene Editing Machinery
Carboni, V., Maaliki, C., Alyami, M., Alsaiari, S. K., & Khashab, N. M. (2019) · Advanced Therapeutics · doi:10.1002/adtp.201800085 · Cited by 34
Diverse Approaches to Gene Therapy of Sickle Cell Disease
White, S. L., Hart, K. L., & Kohn, D. B. (2022) · Annual Review of Medicine · doi:10.1146/annurev-med-042921-021707 · Cited by 33
The p53 challenge of hematopoietic stem cell gene editing
Dorset, S. R., & Bak, R. O. (2023) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2023.06.003 · Cited by 33
Self-citationShakirova, A. I., Karpov, T. E., Komarova, Y., & Lepik, K. V. (2023) · Frontiers in Genome Editing · doi:10.3389/fgeed.2023.1068637 · Cited by 33
Baik, R., Cromer, M. K., Glenn, S. E., Vakulskas, C. A., Chmielewski, K. O., Dudek, A. M., Feist, W. N., Klermund, J., Shipp, S., Cathomen, T., et al. (2024) · Nature Communications · doi:10.1038/s41467-023-43413-w · Cited by 31
Self-citationParola, C., Neumeier, D., Friedensohn, S., Csepregi, L., Tacchio, M. D., Mason, D. M., & Reddy, S. T. (2019) · mAbs · doi:10.1080/19420862.2019.1662691 · Cited by 33
Pesch, T., Bonati, L., Kelton, W., Parola, C., Ehling, R. A., Csepregi, L., Kitamura, D., & Reddy, S. T. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.02630 · Cited by 33
Molecular Medicine: Found in Translation
Orkin, S. H. (2021) · Med · doi:10.1016/j.medj.2020.12.011 · Cited by 36
Enrichment strategies to enhance genome editing
Mikkelsen, N. S., & Bak, R. O. (2023) · Journal of Biomedical Science · doi:10.1186/s12929-023-00943-1 · Cited by 32
Self-citationDisruptive Technology: CRISPR/Cas-Based Tools and Approaches
Patsali, P., Kleanthous, M., & Lederer, C. W. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00391-4 · Cited by 31
Efficient CRISPR/Cas9-Mediated Gene Knockin in Mouse Hematopoietic Stem and Progenitor Cells
Tran, N. T., Sommermann, T. G., Graf, R., Trombke, J., Pempe, J., Petsch, K., Kühn, R., Rajewsky, K., & Chu, V. T. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.08.065 · Cited by 34
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Frati, G., & Miccio, A. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10030482 · Cited by 31
Williams, B. O., & Warman, M. L. (2017) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.3086 · Cited by 33
Yang, H., Qing, K., Keeler, G. D., Yin, L., Mietzsch, M., Ling, C., Hoffman, B. E., Agbandje‐McKenna, M., Tan, M., Wang, W., et al. (2020) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2020.03.009 · Cited by 31
Sharma, R., Dever, D. P., Lee, C. M., Azizi, A., Pan, Y., Camarena, J., Köhnke, T., Bao, G., Porteus, M. H., & Majeti, R. (2021) · Nature Communications · doi:10.1038/s41467-020-20792-y · Cited by 30
Self-citationDudek, A. M., & Porteus, M. H. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.660302 · Cited by 30
Self-citationControlling genetic heterogeneity in gene-edited hematopoietic stem cells by single-cell expansion
Becker, H., Ishida, R., Wilkinson, A. C., Kimura, T., Lee, M. S. J., Coban, C., Ota, Y., Tanaka, Y., Roskamp, M. M., Sano, T., et al. (2023) · Cell stem cell · doi:10.1016/j.stem.2023.06.002 · Cited by 35
Frati, G., Brusson, M., Sartre, G., Mlayah, B., Félix, T., Chalumeau, A., Antoniou, P., Hardouin, G., Concordet, J., Romano, O., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.07.015 · Cited by 32
Gene Therapy for Beta-Hemoglobinopathies: Milestones, New Therapies and Challenges
Ghiaccio, V., Chappell, M., Rivella, S., & Breda, L. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00383-4 · Cited by 29
Haro‐Mora, J. J., Uchida, N., Demirci, S., Wang, Q., Zou, J., & Tisdale, J. F. (2020) · Stem Cells Translational Medicine · doi:10.1002/sctm.19-0216 · Cited by 30
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Doerfler, P. A., Sharma, A., Porter, J. S., Zheng, Y., Tisdale, J. F., & Weiss, M. J. (2021) · Journal of Clinical Investigation · doi:10.1172/jci146394 · Cited by 30
Circular RNAs in stem cells: from basic research to clinical implications
Lu, H., Li, J., Yang, G., Yi, C., Zhang, D., Yu, F., & Ma, Z. (2021) · Bioscience Reports · doi:10.1042/bsr20212510 · Cited by 29
Kotmayer, L., Romero–Moya, D., Marín-Béjar, O., Kozyra, E. J., Català, A., Bigas, A., Włodarski, M. W., Bödör, C., & Giorgetti, A. (2022) · British Journal of Haematology · doi:10.1111/bjh.18330 · Cited by 31
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Suoranta, T., Laham-Karam, N., & Ylä‐Herttuala, S. (2022) · Frontiers in Molecular Medicine · doi:10.3389/fmmed.2022.1054069 · Cited by 32
Karpov, D. S., Sosnovtseva, A. O., Pylina, S. V., Bastrich, A., Petrova, D. A., Kovalev, M. A., Shuvalova, A. I., Константиновна, Е. А., & Mokrysheva, N. G. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242417320 · Cited by 30
CRISPR/Cas9 system: a powerful technology for in vivo and ex vivo gene therapy
Zhang, X., Wang, L., Liu, M., & Li, D. (2017) · Science China Life Sciences · doi:10.1007/s11427-017-9057-2 · Cited by 28
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Randhawa, S., & Sengar, S. (2021) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2021.01.002 · Cited by 31
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Paschoudi, K., Yannaki, E., & Psatha, N. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119527 · Cited by 30
Lee, B., Gin, A. L., Wu, C., Singh, K., Grice, M. Z., Mortlock, R. D., Abraham, D. M., Fan, X., Zhou, Y., Aljanahi, A. A., et al. (2024) · Cell stem cell · doi:10.1016/j.stem.2024.02.010 · Cited by 30
CRISPR-based therapeutic genome editing for inherited blood disorders
Levesque, S., & Bauer, D. E. (2025) · Nature Reviews Drug Discovery · doi:10.1038/s41573-025-01236-y · Cited by 31
Historical Perspective on the Current Renaissance for Hematopoietic Stem Cell Gene Therapy
Kohn, D. B. (2017) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2017.06.006 · Cited by 28
Tracking the origin, development, and differentiation of hematopoietic stem cells
Dharampuriya, P. R., Scapin, G., Wong, C., Wagner, K., Cillis, J. L., & Shah, D. I. (2017) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2018.01.002 · Cited by 26
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Xiao, J., Yang, D., Li, Q., Tian, W., & Guo, W. (2018) · Stem Cell Research & Therapy · doi:10.1186/s13287-018-0928-8 · Cited by 27
Advances in the gene therapy of monogenic blood cell diseases
Bueren, J. A., Bustamante, O. Q., Almarza, E., Navarro, S., Rı́o, P., Segovia, J. C., & Güenechea, G. (2019) · Clinical Genetics · doi:10.1111/cge.13593 · Cited by 28
Hematopoietic stem cell gene therapy: The optimal use of lentivirus and gene editing approaches
Lamsfus‐Calle, A., Daniel-Moreno, A., Ureña-Bailén, G., Raju, J., Antony, J. S., Handgretinger, R., & Mezger, M. (2019) · Blood Reviews · doi:10.1016/j.blre.2019.100641 · Cited by 29
Genome editing using CRISPR/Cas9 to treat hereditary hematological disorders
Chen, Y., Wen, R., Yang, Z., & Chen, Z. (2021) · Gene Therapy · doi:10.1038/s41434-021-00247-9 · Cited by 29
Genome editing approaches to β-hemoglobinopathies
Brusson, M., & Miccio, A. (2021) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2021.01.025 · Cited by 29
Uchida, N., Li, L., Nassehi, T., Drysdale, C. M., Yapundich, M., Gamer, J., Haro‐Mora, J. J., Demirci, S., Leonard, A. K., Bonifacino, A. C., et al. (2021) · Cell Reports Medicine · doi:10.1016/j.xcrm.2021.100247 · Cited by 28
Self-citationEditing outside the body: Ex vivo gene-modification for β-hemoglobinopathy cellular therapy
Rosanwo, T. O., & Bauer, D. E. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.10.002 · Cited by 30
Rao, I., Crisafulli, L., Paulis, M., & Ficara, F. (2022) · Cells · doi:10.3390/cells11030557 · Cited by 27
Technical considerations for the use of CRISPR/Cas9 in hematology research
Gundry, M. C., Dever, D. P., Yudovich, D., Bauer, D. E., Haas, S., Wilkinson, A. C., & Singbrant, S. (2017) · Experimental Hematology · doi:10.1016/j.exphem.2017.07.006 · Cited by 26
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Romero, Z. G., DeWitt, M. A., & Walters, M. C. (2018) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2018.1536119 · Cited by 27
Bustamante, O. Q., Fañanas-Baquero, S., Orman, I., Torres-Ruiz, R., Duchateau, P. N., Poirot, L., Gouble, A., Bueren, J. A., & Segovia, J. C. (2019) · PLoS ONE · doi:10.1371/journal.pone.0223775 · Cited by 26
Yudovich, D., Bäckström, A., Schmiderer, L., Žemaitis, K., Subramaniam, A., & Larsson, J. (2020) · Scientific Reports · doi:10.1038/s41598-020-79724-x · Cited by 26
Nasri, M., Mir, P., Dannenmann, B., Amend, D., Skroblyn, T., Xu, Y., Schulze‐Osthoff, K., Klimiankou, M., Welte, K., & Skokowa, J. (2019) · Blood Advances · doi:10.1182/bloodadvances.2017015511 · Cited by 25
Interpreting CRISPR-Cas12a enzyme kinetics through free energy change of nucleic acids
Zhang, J., Guan, X., Moon, J., Zhang, S., Jia, Z., Yang, R., Hou, C., Guo, C., Pei, M., & Liu, C. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae1124 · Cited by 24
The past, present and future management of sickle cell retinopathy within an African context
Amissah-Arthur, K. N., & Mensah, E. (2018) · Eye · doi:10.1038/s41433-018-0162-8 · Cited by 26
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Sun, J., Wang, J., Zheng, D., & Hu, X. (2019) · Briefings in Functional Genomics · doi:10.1093/bfgp/elz031 · Cited by 25
Cho, H., Yoo, M., Pongkulapa, T., Rabie, H., Muotri, A. R., Yin, P. T., Choi, J., & Lee, K. (2024) · Advanced Science · doi:10.1002/advs.202306432 · Cited by 29
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Motta, I., Scaramellini, N., & Cappellini, M. D. (2017) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2017.1335709 · Cited by 26
Genome edited B cells: a new frontier in immune cell therapies
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Allen, D. G., Weiss, L. E., Saguy, A., Rosenberg, M., Iancu, O., Matalon, O., Lee, C. M., Beider, K., Nagler, A., Shechtman, Y., et al. (2022) · The CRISPR Journal · doi:10.1089/crispr.2021.0128 · Cited by 25
Self-citationEscobar, M., Li, J., Patel, A., Liu, S., Xu, Q., & Hilton, I. B. (2022) · ACS Synthetic Biology · doi:10.1021/acssynbio.2c00156 · Cited by 25
Brianna, B., Ling, A. P. K., & Wong, Y. P. (2022) · Stem Cell Investigation · doi:10.21037/sci-2022-021 · Cited by 25
Castiello, M. C., Brandas, C., Ferrari, S., Porcellini, S., Sacchetti, N., Canarutto, D., Draghici, E., Merelli, I., Barcella, M., Pelosi, G., et al. (2024) · Science Translational Medicine · doi:10.1126/scitranslmed.adh8162 · Cited by 25
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Boulad, F., Mansilla‐Soto, J., Cabriolu, A., Rivière, I., & Sadelain, M. (2018) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2017.11.007 · Cited by 24
Uchida, N., Haro‐Mora, J. J., Demirci, S., Fujita, A., Raines, L. N., Hsieh, M. M., & Tisdale, J. F. (2018) · Experimental Hematology · doi:10.1016/j.exphem.2018.02.007 · Cited by 25
Self-citationTsukamoto, T., Sakai, E., Iizuka, S., Taracena-Gándara, M., Sakurai, F., & Mizuguchi, H. (2018) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b18-00222 · Cited by 25
Genome editing in the mammalian brain using the CRISPR–Cas system
Nishiyama, J. (2018) · Neuroscience Research · doi:10.1016/j.neures.2018.07.003 · Cited by 25
Rogers, G. L., Chen, H.-Y., Morales, H., & Cannon, P. M. (2019) · Molecular Therapy · doi:10.1016/j.ymthe.2019.08.019 · Cited by 24
Highly Efficient Gene Disruption of Murine and Human Hematopoietic Progenitor Cells by CRISPR/Cas9
Brunetti, L., Gundry, M. C., Kitano, A., Nakada, D., & Goodell, M. A. (2018) · Journal of Visualized Experiments · doi:10.3791/57278-v · Cited by 34
Burden of Mendelian disorders in a large Middle Eastern biobank
Aamer, W., Al-Maraghi, A., Syed, N., Gandhi, G. D., ALIYEV, E. E., Al-Kurbi, A. A., Al-Saei, O., Kohailan, M., Krishnamoorthy, N., Palaniswamy, S., et al. (2024) · Genome Medicine · doi:10.1186/s13073-024-01307-6 · Cited by 25
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Rostami, T., Rad, S., Rostami, M. R., Mirhoseini, S. A., Alemi, H., Khavandgar, N., Janbabai, G., Kiumarsi, A., Kasaeian, A., & Mousavi, S. A. (2024) · Cell Transplantation · doi:10.1177/09636897241246351 · Cited by 24
Yang, X., Bui, T. A., Mei, H., Aksoy, Y. A., Deng, F., Hutvágner, G., & Deng, W. (2024) · Advanced Functional Materials · doi:10.1002/adfm.202402630 · Cited by 28
Ball, J., Bradley, A., Le, A., Tisdale, J. F., & Uchida, N. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.03.016 · Cited by 26
Self-citationGenome and Epigenome Editing to Treat Disorders of the Hematopoietic System
Mussolino, C., Alzubi, J., Pennucci, V., Turchiano, G., & Cathomen, T. (2017) · Human Gene Therapy · doi:10.1089/hum.2017.149 · Cited by 23
CRISPR/Cas9 for the treatment of haematological diseases: a journey from bacteria to the bedside
Humbert, O., Samuelson, C., & Kiem, H. (2020) · British Journal of Haematology · doi:10.1111/bjh.16807 · Cited by 27
Maganti, H. B., Bailey, A. J.-M., Kirkham, A. M., Shorr, R., Pineault, N., & Allan, D. (2021) · Stem Cells Translational Medicine · doi:10.1002/sctm.20-0520 · Cited by 24
López‐Márquez, A., Morin, M., Fernández-Peñalver, S., Badosa, C., Hernández-Delgado, A., Benito, D. N., Ortez, C., Nascimento, A., Grinberg, D., Balcells, S., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23084410 · Cited by 23
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Pedrazzoli, E., Bianchi, A., Umbach, A., Amistadi, S., Brusson, M., Frati, G., Ciciani, M., Badowska, K. A., Arosio, D., Miccio, A., et al. (2023) · Molecular Therapy · doi:10.1016/j.ymthe.2023.03.007 · Cited by 24
Allen, D. G., Knop, O., Itkowitz, B., Kalter, N., Rosenberg, M., Iancu, O., Beider, K., Lee, Y. N., Nagler, A., Somech, R., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-42036-5 · Cited by 25
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Sherkow, J. S. (2017) · PubMed Central · Cited by 23
Steffin, D., Hsieh, E. M., & Rouce, R. H. (2019) · Advances in Pediatrics · doi:10.1016/j.yapd.2019.04.001 · Cited by 24
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Fañanas-Baquero, S., Bustamante, O. Q., Dever, D. P., Alberquilla, O., Sánchez‐Domínguez, R., Camarena, J., Ojeda-Pérez, I., Dessy-Rodríguez, M., Turk, R., Schubert, M. S., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.05.001 · Cited by 22
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Cruz, L. J., Rezaei, S., Grosveld, F. G., Philipsen, S., & Eich, C. (2022) · Frontiers in Genome Editing · doi:10.3389/fgeed.2022.1030285 · Cited by 23
Neldeborg, S., Soerensen, J. F., Møller, C. T., Bill, M., Gao, Z., Bak, R. O., Holm, K., Sørensen, B. S., Nyegaard, M., Luo, Y., et al. (2023) · Leukemia · doi:10.1038/s41375-023-01950-9 · Cited by 22
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Collins, M. C., Lau, M. B., Ma, W., Shen, A., Wang, B., Cai, S., Russa, M. F. L., Jewett, M. C., & Qi, L. S. (2024) · Nature Communications · doi:10.1038/s41467-024-50767-2 · Cited by 22
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White, M. K., Kaminski, R., Young, W., Roehm, P. C., & Khalili, K. (2017) · Journal of Cellular Biochemistry · doi:10.1002/jcb.26099 · Cited by 25
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Razzouk, S. (2018) · Annals of Human Genetics · doi:10.1111/ahg.12271 · Cited by 22
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Shi, X. E., Kitano, A., Jiang, Y., Luu, V., Hoegenauer, K. A., & Nakada, D. (2018) · Experimental Hematology · doi:10.1016/j.exphem.2018.04.009 · Cited by 21
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Cho, H., & Cho, J. (2021) · Stem Cell Reviews and Reports · doi:10.1007/s12015-020-10096-5 · Cited by 21
Hung, C., Tsai, Y.-W., Wu, Y., Yeh, C., & Yang, K. (2022) · Journal of Biomedical Science · doi:10.1186/s12929-022-00850-x · Cited by 21
Foßelteder, J., Pabst, G., Sconocchia, T., Schlacher, A., Auinger, L., Kashofer, K., Beham‐Schmid, C., Trajanoski, S., Waskow, C., Schöll, W., et al. (2023) · Leukemia · doi:10.1038/s41375-023-01848-6 · Cited by 21
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Kelton, W., Waindok, A. C., Pesch, T., Pogson, M., Ford, K., Parola, C., & Reddy, S. T. (2017) · Scientific Reports · doi:10.1038/srep45775 · Cited by 21
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Hetzel, M., Suzuki, T., Hashtchin, A. R., Arumugam, P. I., Carey, B. C., Schwabbauer, M., Kuhn, A., Meyer, J., Schambach, A., van der Loo, J. C. M., et al. (2017) · Human Gene Therapy Methods · doi:10.1089/hgtb.2017.092 · Cited by 21
Jayavaradhan, R., Pillis, D. M., & Malik, P. (2018) · Journal of Molecular Biology · doi:10.1016/j.jmb.2018.05.005 · Cited by 20
Metadata
- Authors
- Dever, D. P., Bak, R. O., Reinisch, A., Camarena, J., Washington, G., Nicolas, C. E., Pavel-Dinu, M., Saxena, N., Wilkens, A. B., Mantri, S., Uchida, N., Hendel, A., Narla, A., Majeti, R., Weinberg, K. I., & Porteus, M. H.
- Affiliations
- Stanford University (US)
- Institute for Stem Cell Biology and Regenerative Medicine (US)
- Stanford Medicine (US)
- Corresponding author
- Porteus, Matthew H.
- ORCID
- Venue
- Nature
- Published
- 2016-11-07
- Volume
- 539
- Issue
- 7629
- Pages
- 384-389
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5898607
- OpenAlex
- W2547418311
- Semantic Scholar
- 91eb4c33902b14df9b2974a4ce8dc6e3c3a02125
- Cited by
- 864
- References
- 50
- Citations by year
- 2026: 45 · 2025: 75 · 2024: 80 · 2023: 93 · 2022: 76 · 2021: 120 · 2020: 93 · 2019: 90 · 2018: 99 · 2017: 89 · 2016: 4
- FWCI
- 48.84
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institutes of Health (5r01ai120766-02, R01-AI120766)
- National Eye Institute (PN2EY018244)
- National Institute of General Medical Sciences (T32GM007266)
- National Institute of Allergy and Infectious Diseases (R01-AI120766, R01AI097320)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Keywords
- CRISPR/Cas9 genome editing, beta-globin gene, hematopoietic stem cells, sickle cell disease, beta-thalassemia, homologous recombination, adeno-associated virus vectors, Cas9 ribonucleoprotein, autologous transplantation, reporter genes
- MeSH terms
- Gene Editing, Dependovirus, Alleles, Anemia, Sickle Cell, Animals, Cell Differentiation, Cell Separation, Erythrocytes, Female, Flow Cytometry, Hematopoietic Stem Cells, Humans, Microspheres, Mutation, RNA, Messenger, Genetic Therapy, Mice, SCID, Mice, Inbred NOD, beta-Thalassemia, Genes, Reporter, Gene Targeting, Antigens, CD34, Cell Lineage, beta-Globins, Magnets, Homologous Recombination, CRISPR-Cas Systems, CRISPR-Associated Proteins
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