Vaidyanathan, S., McCarra, M., and Desai, TJ “Lung stem cells and the treatment of cystic fibrosis” in Lung Stem Cell Development, Health and Disease (eds. Nikolić, MZ and Hoganheffield, BLM) 306–321 (European Respiratory Society, 2021).
Masayuki Ito et al. “Footprint-free gene mutation correction in recessive dystrophic epidermolysis bullosa (RDEB)-derived induced pluripotent stem cells (iPSCs) using CRISPR/Cas9 and piggyBac transposon systems.” J. Dermatol. Sci. 98, 163–172 (2020).
Wilkinson, AC et al. Cas9-AAV6-mediated beta-globin gene correction of autologous HSCs improves sickle cell erythropoiesis in mice. Nat. Commun. 12, 686 (2021).
Khalil, A.M. “The genome editing revolution.” J. Genet. Eng. Biotechnol. 18, 68 (2020).
Martin, RM et al. Highly efficient, marker-free genome editing of human pluripotent stem cells by CRISPR-Cas9 RNP and AAV6 donor-mediated homologous recombination. Cell Stem Cell 24, 821–828 (2019).
Dever, DP et al. CRISPR/Cas9 targeting of the β-globin gene into human hematopoietic stem cells. Nature 539, 384–389 (2016).
Gaj, T. et al. Targeted gene knock-in by homologous genome editing using Cas9 ribonucleoprotein and AAV donor delivery. Nucleic Acids Res. 45, e98 (2017).
Charlesworth, CT et al. Priming human repopulating hematopoietic stem and progenitor cells for Cas9/sgRNA gene targeting. Mol. Ther. Nucleic Acids 12, 89–104 (2018).
Romero, Z. et al. Editing sickle cell mutations in human hematopoietic stem cells: comparison of endonucleases and homologous donor templates. Mol. Ther. 27, 1389–1406 (2019).
Zheng, Y. et al. Efficient in vivo homologous recombination repair in cardiomyocytes. Circulation 145, 787–789 (2022).
Kuzmin, DA et al. Clinical perspectives of AAV gene therapy. Nat. Rev. Drug Discov. 20, 173–175 (2021).
Hanlon, KS et al. High-level integration of AAV vectors into CRISPR-induced DNA breaks. Nat. Commun. 10, 4439 (2019).
Nelson, CE et al. Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy. Nat. Med. 25, 427–432 (2019).
Koniali, L., Lederer, CW & Kleanthous, M. Therapeutic development through genome editing of hematopoietic stem cells. Cells 10, 1492 (2021).
Haltalli, ML et al. Gene editing and expansion of hematopoietic stem cells: state of the art and recent applications. Exp. Hemat. 107, 9–13 (2022).
Notta, F. et al. Isolation of a single human hematopoietic stem cell capable of long-term multilineage engraftment. Science 333, 218–221 (2011).
Soldner, F. & Jaenisch, R. Stem cells, genome editing, and the path to translational medicine. Cell 175, 615–632 (2018).
Moço, PD, Aharony, N. & Kamen, A. Adeno-associated viral vectors for homologous guided generation of CAR-T cells. Biotechnol. J. 15, 1900286 (2020).
Bak, RO et al. Multiplex genetic engineering of human hematopoietic stem and progenitor cells using CRISPR/Cas9 and AAV6. eLife 6, e27873 (2017).
Martin, RM et al. Improving the safety of human pluripotent stem cell therapy using genome editing orthogonal safeguards. Nat. Commun. 11, 2713 (2020).
Straathof, KC et al. An inducible caspase-9 safety switch for T cell therapy. Blood 105, 4247–4254 (2005).
Haberman, RP, McCown, TJ & Samulski, RJ. A novel transcriptional regulatory signal in the adeno-associated virus long terminal repeat A/D junction element. J. Virol. 74, 8732–8739 (2000).
Flotte, TR et al. Expression of the cystic fibrosis transmembrane conductance regulator from a novel adeno-associated virus promoter. J. Biol. Chem. 268, 3781–3790 (1993).
Bak, RO, Dever, DP & Porteus, MH CRISPR/Cas9 genome editing in human hematopoietic stem cells. Nat. Protoc. 13, 358–376 (2018).
Duan, D. et al. Recombinant adeno-associated virus circular intermediates define structural features responsible for long-term episomal persistence in muscle tissue. J. Virol. 72, 8568–8577 (1998).
Shestak, AG et al. Allelic dropout is a common phenomenon reducing the diagnostic yield of PCR-based sequencing of targeted gene panels. Front. Genet. 12, 62033721 (2021).
Kanagawa, T. Bias and artifacts in multitemplate polymerase chain reaction (PCR). J. Biosci. Bioeng. 96, 317–323 (2003).
McCarty, D. et al. Adeno-associated virus terminal repeat (TR) mutants generate self-complementing vectors to overcome rate-limiting steps for in vivo transduction. Gene Ther. 10, 2112–2118 (2003).
Ma, E. et al. Single-stranded DNA cleavage by diverse CRISPR-Cas9 enzymes. Mol. Cell 60, 398–407 (2015).
Ferrari, S. et al. Selective template delivery reduces genotoxic risks and adverse effects of editing in human hematopoietic stem cells. Cell Stem Cell 29, 1428–1444 (2022).
Nishimura, T. et al. Sufficiency of the inducible caspase-9 safety switch in human pluripotent stem cells and diseased cells. Gene Ther. 27, 525–534 (2020).
Chao, MP et al. Human AML-iPSCs reacquire leukemic characteristics after differentiation and model clonal variation of the disease. Cell Stem Cell 20, 329–344 (2017).
Ang, LT et al. Generating human arterial and venous cells from pluripotent stem cells reveals arterial tropism of Nipah and Hendra viruses. Cell 185, 2523–2541 (2022).
Whale, AS, Huggett, JF & Tzonev, S. Fundamentals of multiplexing with digital PCR. Biomol. Detect. Quantif. 10, 15–23 (2016).
