{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T21:20:06Z","timestamp":1784928006834,"version":"3.55.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"University Grenoble Alpes"},{"name":"Faculty of Medicine Grenoble, and Interreg France-Suisse"},{"name":"Programme de Cooperation Territoriale Europe\u0301enne"},{"name":"Fond Europe\u0301en de De\u0301veloppement Regional"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Chronic granulomatous disease (CGD) is a rare primary immune disorder caused by mutations in one of the five subunits of the NADPH oxidase complex expressed in phagocytes. Two-thirds of CGD cases are caused by mutations in CYBB that encodes NOX2 or gp91phox. Some rare X91+-CGD point mutations lead to a loss of function but with a normal expression of the mutated NOX2 protein. It is therefore necessary to ensure that this mutation is indeed responsible for the loss of activity in order to make a safe diagnosis for genetic counselling. We previously used the X-CGD PLB-985 cell model of M.C. Dinauer obtained by homologous recombination in the original PLB-985 human myeloid cell line, in order to study the functional impact of such mutations. Although the PLB-985 cell line was originally described by K.A. Tucker et al. in1987 as a distinct cell line isolated from a patient with acute nonlymphocytic leukemia, it is actually identified as a subclone of the HL-60 cells. In order to use a cellular model that meets the quality standard for the functional study of X91+-CGD mutations in CGD diagnosis, we developed our own model using the CRISPR-Cas9 technology in a certified PLB-985 cell line from DSMZ-German Collection of Microorganisms and Cell Cultures. Thanks to this new X-CGD model, we demonstrated that the G412E mutation in NOX2 found in a X91+-CGD patient prohibits access of the electron donor NADPH to its binding site explaining the absence of superoxide production in his neutrophils.<\/jats:p>","DOI":"10.1093\/cei\/uxad028","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T17:14:30Z","timestamp":1677258870000},"page":"156-165","source":"Crossref","is-referenced-by-count":2,"title":["CRISPR-gene-engineered <i>CYBB<\/i> knock-out PLB-985 cells, a useful model to study functional impact of X-linked chronic granulomatous disease mutations: application to the G412E X91+-CGD mutation"],"prefix":"10.1093","volume":"212","author":[{"given":"Sylvain","family":"Beaumel","sequence":"first","affiliation":[{"name":"Centre Hospitalier Universitaire Grenoble Alpes, P\u00f4le Biologie, CDiReC , Grenoble , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Verbrugge","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire Grenoble Alpes, P\u00f4le Biologie, CDiReC , Grenoble , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Fieschi","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, CNRS, CEA, UMR5075, Institut de Biologie Structurale , Grenoble , France"},{"name":"Institut Universitaire de France (IUF), Minist\u00e8re de l'Enseignement sup\u00e9rieur , de la Recherche et de l'Innovation, Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4466-4880","authenticated-orcid":false,"given":"Marie Jos\u00e9","family":"Stasia","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire Grenoble Alpes, P\u00f4le Biologie, CDiReC , Grenoble , France"},{"name":"Univ. 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