Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes

Ackermann, 2018, Bioreactor-based mass production of human iPSC-derived macrophages enables immunotherapies against bacterial airway infections, Nat. Commun., 9, 5088, 10.1038/s41467-018-07570-7 Ackermann, 2014, Promoter and lineage independent anti-silencing activity of the A2 ubiquitous chromatin opening element for optimized human pluripotent stem cell-based gene therapy, Biomaterials, 35, 1531, 10.1016/j.biomaterials.2013.11.024 Connelly, 2018, Allogeneic hematopoietic cell transplantation for chronic granulomatous disease: controversies and state of the art, J. Pediatr. Infect. Dis. Soc., 7, 31, 10.1093/jpids/piy015 Greve, 2008, NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity, Malar. J., 7, 251, 10.1186/1475-2875-7-251 Güngör, 2014, Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study, Lancet, 383, 436, 10.1016/S0140-6736(13)62069-3 Harbord, 2003, Association between p47phox pseudogenes and inflammatory bowel disease, Blood, 101, 3337, 10.1182/blood-2002-10-3060 Holland, 2010, Chronic granulomatous disease, Clin. Rev. Allergy Immunol., 38, 3, 10.1007/s12016-009-8136-z Marciano, 2017, Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: the NIH experience, J. Allergy Clin. Immunol., 140, 622, 10.1016/j.jaci.2017.02.026 Marciano, 2017, X-linked carriers of chronic granulomatous disease: illness, lyonization and stability, J. Allergy Clin. Immunol., 141, 365, 10.1016/j.jaci.2017.04.035 Merling, 2017, Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease, Blood Adv., 1, 270, 10.1182/bloodadvances.2016001214 Mills, 2013, Clonal genetic and hematopoietic heterogeneity among human-induced pluripotent stem cell lines, Blood, 122, 2047, 10.1182/blood-2013-02-484444 Ott, 2006, Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1, Nat. Med., 12, 401, 10.1038/nm1393 Reeves, 2002, Killing activity of neutrophils is mediated through activation of proteases by K+ flux, Nature, 416, 291, 10.1038/416291a Roesler, 2000, Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease, Blood, 95, 2150, 10.1182/blood.V95.6.2150 Roos, 1994, The genetic basis of chronic granulomatous disease, Immunol. Rev., 138, 121, 10.1111/j.1600-065X.1994.tb00850.x Roos, 2010, Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update), Blood Cells Mol. Dis., 44, 291, 10.1016/j.bcmd.2010.01.009 Seger, 2008, Modern management of chronic granulomatous disease, Br. J. Haematol., 140, 255, 10.1111/j.1365-2141.2007.06880.x Sweeney, 2017, Targeted repair of CYBB in X-CGD iPSCs requires retention of intronic sequences for expression and functional correction, Mol. Ther., 25, 321, 10.1016/j.ymthe.2016.11.012 Trump, 2019, Neutrophils derived from genetically modified human induced pluripotent stem cells circulate and phagocytose bacteria in vivo, Stem Cells Transl. Med., 8, 557, 10.1002/sctm.18-0255 Vakulskas, 2018, A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells, Nat. Med., 24, 1216, 10.1038/s41591-018-0137-0 Xu, 2015, Functional pseudogenes inhibit the superoxide production, Precis. Med., 1, 1