000132106 001__ 132106
000132106 005__ 20240319081007.0
000132106 0247_ $$2doi$$a10.1016/j.scr.2021.102632
000132106 0248_ $$2sideral$$a131730
000132106 037__ $$aART-2022-131730
000132106 041__ $$aeng
000132106 100__ $$0(orcid)0000-0003-3524-5158$$aHernández-Ainsa, Carmen
000132106 245__ $$aGeneration of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene
000132106 260__ $$c2022
000132106 5060_ $$aAccess copy available to the general public$$fUnrestricted
000132106 5203_ $$aAutosomal recessive mutations in Thymidine kinase 2 (TK2) gene cause depletion and multiple deletions in mtDNA which normally lead to fatal and progressive neuromyopathy in infants and children. We have generated an induced pluripotent stem cell (iPSC) line by reprogramming fibroblasts derived from a patient carrying TK2 mutations. New iPSC line pluripotency was evaluated by verifying the expression of pluripotency-related genes and the in vitro differentiation into the three germ layers. This human-derived model will be useful for studying the pathogenic mechanisms triggered by these mutations and for testing therapies in cell types normally affected in patients.
000132106 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229
000132106 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000132106 590__ $$a1.2$$b2022
000132106 591__ $$aBIOTECHNOLOGY & APPLIED MICROBIOLOGY$$b148 / 158 = 0.937$$c2022$$dQ4$$eT3
000132106 591__ $$aCELL & TISSUE ENGINEERING$$b28 / 29 = 0.966$$c2022$$dQ4$$eT3
000132106 591__ $$aCELL BIOLOGY$$b186 / 191 = 0.974$$c2022$$dQ4$$eT3
000132106 592__ $$a0.521$$b2022
000132106 593__ $$aMedicine (miscellaneous)$$c2022$$dQ2
000132106 593__ $$aDevelopmental Biology$$c2022$$dQ3
000132106 593__ $$aCell Biology$$c2022$$dQ4
000132106 594__ $$a2.3$$b2022
000132106 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000132106 700__ $$aNascimento, Andrés
000132106 700__ $$aJou, Cristina
000132106 700__ $$aArtuch, Rafael
000132106 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000132106 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000132106 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000132106 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000132106 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000132106 773__ $$g59 (2022), 102632 [4 pp.]$$pStem Cell Research$$tSTEM CELL RESEARCH$$x1873-5061
000132106 8564_ $$s2377550$$uhttps://zaguan.unizar.es/record/132106/files/texto_completo.pdf$$yVersión publicada
000132106 8564_ $$s2093372$$uhttps://zaguan.unizar.es/record/132106/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000132106 909CO $$ooai:zaguan.unizar.es:132106$$particulos$$pdriver
000132106 951__ $$a2024-03-18-14:46:33
000132106 980__ $$aARTICLE