132106 20240319081007.0 doi 10.1016/j.scr.2021.102632 sideral 131730 ART-2022-131730 eng Hernández-Ainsa, Carmen (orcid)0000-0003-3524-5158 Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene 2022 Access copy available to the general public Unrestricted Autosomal 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. info:eu-repo/grantAgreement/ES/DGA/B33 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229 info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ 1.2 2022 BIOTECHNOLOGY & APPLIED MICROBIOLOGY 148 / 158 = 0.937 2022 Q4 T3 CELL & TISSUE ENGINEERING 28 / 29 = 0.966 2022 Q4 T3 CELL BIOLOGY 186 / 191 = 0.974 2022 Q4 T3 0.521 2022 Medicine (miscellaneous) 2022 Q2 Developmental Biology 2022 Q3 Cell Biology 2022 Q4 2.3 2022 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Nascimento, Andrés Jou, Cristina Artuch, Rafael Montoya, Julio Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini, Eduardo Universidad de Zaragoza (orcid)0000-0002-0269-7337 Emperador, Sonia Universidad de Zaragoza (orcid)0000-0001-5964-6138 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 59 (2022), 102632 [4 pp.] Stem Cell Research STEM CELL RESEARCH 1873-5061 2377550 http://zaguan.unizar.es/record/132106/files/texto_completo.pdf Versión publicada 2093372 http://zaguan.unizar.es/record/132106/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:132106 articulos driver 2024-03-18-14:46:33 ARTICLE