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The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment is supportive, thus the development of new models for the study of Pearson syndrome and new therapy strategies is essential. In this work, we report three different cell models carrying an SLMSD: fibroblasts, transmitochondrial cybrids and induced pluripotent stem cells (iPSCs). All studied models exhibited an aberrant mitochondrial ultrastructure and defective oxidative phosphorylation system function, showing a decrease in different parameters, such as mitochondrial ATP, respiratory complex IV activity and quantity or oxygen consumption. Despite this, iPSCs harbouring \u2018common deletion\u2019 were able to differentiate into three germ layers. Additionally, cybrid clones only showed mitochondrial dysfunction when heteroplasmy level reached 70%. Some differences observed among models may depend on their metabolic profile; therefore, we consider that these three models are useful for the in vitro study of Pearson syndrome, as well as for testing new specific therapies.<\/jats:p>\n                  <jats:p>This article has an associated First Person interview with the first author of the paper.<\/jats:p>","DOI":"10.1242\/dmm.049083","type":"journal-article","created":{"date-parts":[[2022,2,22]],"date-time":"2022-02-22T11:26:29Z","timestamp":1645529189000},"source":"Crossref","is-referenced-by-count":12,"title":["Development and characterization of cell models harbouring mtDNA deletions for\n                    <i>in vitro<\/i>\n                    study of Pearson syndrome"],"prefix":"10.1242","volume":"15","author":[{"given":"Carmen","family":"Hern\u00e1ndez-Ainsa","sequence":"first","affiliation":[{"name":"Universidad de Zaragoza 1 Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular , , 50013 Zaragoza , Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS-Arag\u00f3n) 2 , 50009 Zaragoza , Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER) 3 , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"L\u00f3pez-Gallardo","sequence":"additional","affiliation":[{"name":"Universidad de Zaragoza 1 Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular , , 50013 Zaragoza , Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS-Arag\u00f3n) 2 , 50009 Zaragoza , Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER) 3 , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Concepci\u00f3n","family":"Garc\u00eda-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda. Hospital Universitario Miguel Servet 4 , 50009 Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Jos\u00e9","family":"Climent-Alcal\u00e1","sequence":"additional","affiliation":[{"name":"Unidad de Patolog\u00eda Compleja, Servicio de Pediatr\u00eda. Hospital Universitario La Paz 5 , 28046 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Rodr\u00edguez-Vigil","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda. Hospital Universitario Miguel Servet 4 , 50009 Zaragoza , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Garc\u00eda Fern\u00e1ndez de Villalta","sequence":"additional","affiliation":[{"name":"Unidad de Patolog\u00eda Compleja, Servicio de Pediatr\u00eda. Hospital Universitario La Paz 5 , 28046 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER) 3 , 28029 Madrid , Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u 6 Clinical Biochemistry, Genetics, Pediatric Neurology and Neonatalogy Departments , , 08950 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Montoya","sequence":"additional","affiliation":[{"name":"Universidad de Zaragoza 1 Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular , , 50013 Zaragoza , Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS-Arag\u00f3n) 2 , 50009 Zaragoza , Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER) 3 , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0269-7337","authenticated-orcid":false,"given":"Eduardo","family":"Ruiz-Pesini","sequence":"additional","affiliation":[{"name":"Universidad de Zaragoza 1 Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular , , 50013 Zaragoza , Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS-Arag\u00f3n) 2 , 50009 Zaragoza , Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER) 3 , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5964-6138","authenticated-orcid":false,"given":"Sonia","family":"Emperador","sequence":"additional","affiliation":[{"name":"Universidad de Zaragoza 1 Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular , , 50013 Zaragoza , Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Arag\u00f3n (IIS-Arag\u00f3n) 2 , 50009 Zaragoza , Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER) 3 , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,3,1]]},"reference":[{"key":"2024061306474730200_DMM049083C1","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.mito.2009.02.006","article-title":"Quantification of mitochondrial DNA copy number: Pre-analytical factors","volume":"9","author":"Andreu","year":"2009","journal-title":"Mitochondrion"},{"key":"2024061306474730200_DMM049083C2","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1111\/j.1442-9071.2010.02335.x","article-title":"Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions","volume":"38","author":"Ascaso","year":"2010","journal-title":"Clin. 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