{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T21:09:09Z","timestamp":1771708149539,"version":"3.50.1"},"reference-count":23,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Department of Innovation, Research and University of the Autonomous Province of Bolzano","award":["2019-3396"],"award-info":[{"award-number":["2019-3396"]}]},{"name":"Fondazione Cariplo","award":["2019-3396"],"award-info":[{"award-number":["2019-3396"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment\/intellectual disability, dysmorphic facial features and early onset of refractory seizures. Here we report the generation of the first induced pluripotent stem cell (iPSC) lines from a patient with treatment-resistant epilepsy, carrying compound heterozygous mutations in SZT2 (Mut1: c.498G&gt;T and Mut2: c.6553C&gt;T), and his healthy heterozygous parents. Peripheral blood mononuclear cells were reprogrammed by a non-integrating Sendai virus-based reprogramming system. The generated human iPSC lines exhibited expression of the main pluripotency markers, the potential to differentiate into all three germ layers and presented a normal karyotype. These lines represent a valuable resource to study neurodevelopmental alterations, and to obtain mature, pathology-relevant neuronal populations as an in vitro model to perform functional assays and test the patient\u2019s responsiveness to novel antiepileptic treatments.<\/jats:p>","DOI":"10.3390\/ijms232113095","type":"journal-article","created":{"date-parts":[[2022,10,30]],"date-time":"2022-10-30T04:57:34Z","timestamp":1667105854000},"page":"13095","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene"],"prefix":"10.3390","volume":"23","author":[{"given":"Cecilia","family":"Cattelani","sequence":"first","affiliation":[{"name":"Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of L\u00fcbeck, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Battistella","sequence":"additional","affiliation":[{"name":"Laboratory of Stem Cell Biology, Centre for Integrative Biology CIBIO, Universit\u00e0 degli Studi di Trento, 38123 Trento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6167-0679","authenticated-orcid":false,"given":"Francesca","family":"Di Leva","sequence":"additional","affiliation":[{"name":"Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of L\u00fcbeck, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7788-2721","authenticated-orcid":false,"given":"Giulia","family":"Fioravanti","sequence":"additional","affiliation":[{"name":"Laboratory of Stem Cell Biology, Centre for Integrative Biology CIBIO, Universit\u00e0 degli Studi di Trento, 38123 Trento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-0688","authenticated-orcid":false,"given":"Francesco","family":"Benedicenti","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Stanzial","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Schwienbacher","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Pathology, Regional Hospital of Bolzano, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Fanelli","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Pathology, Regional Hospital of Bolzano, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter P.","family":"Pramstaller","sequence":"additional","affiliation":[{"name":"Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of L\u00fcbeck, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6320-0411","authenticated-orcid":false,"given":"Andrew A.","family":"Hicks","sequence":"additional","affiliation":[{"name":"Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of L\u00fcbeck, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2050-9846","authenticated-orcid":false,"given":"Luciano","family":"Conti","sequence":"additional","affiliation":[{"name":"Laboratory of Stem Cell Biology, Centre for Integrative Biology CIBIO, Universit\u00e0 degli Studi di Trento, 38123 Trento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrado","family":"Corti","sequence":"additional","affiliation":[{"name":"Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of L\u00fcbeck, 39100 Bolzano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.freeradbiomed.2009.12.023","article-title":"A novel giant peroxisomal superoxide dismutase motif-containing protein","volume":"48","author":"Toutzaris","year":"2010","journal-title":"Free Radic. 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