Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

by Francisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, Marta Corton, Carmen Ayuso, Rafael Garesse, M. Esther Gallardo
Published 2017-10-01

Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene

by Teresa Galera-Monge, Francisco Zurita-Díaz, Ana Moreno-Izquierdo, Mario F. Fraga, Agustin F. Fernández, C. Ayuso, Rafael Garesse, M. Esther Gallardo
Published 2016-05-01

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene

by Teresa Galera-Monge, Francisco Zurita-Díaz, Cristina González-Páramos, Ana Moreno-Izquierdo, Mario F. Fraga, Agustin F. Fernández, Rafael Garesse, M. Esther Gallardo
Published 2016-05-01

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene

by Francisco Zurita-Díaz, María del Carmen Ortuño-Costela, Ana Moreno-Izquierdo, Liliana Galbis, José María Millán, Carmen Ayuso, Rafael Garesse, M. Esther Gallardo
Published 2018-08-01

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

by María del Carmen Ortuño-Costela, Nathalie Rodríguez-Mancera, Marta García-López, Francisco Zurita-Díaz, Ana Moreno-Izquierdo, Alejandro Lucía, Miguel Ángel Martín, Rafael Garesse, M. Esther Gallardo
Published 2017-08-01

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

by Teresa Galera-Monge, Francisco Zurita-Díaz, Isaac Canals, Marita Grønning Hansen, Laura Rufián-Vázquez, Johannes K. Ehinger, Eskil Elmér, Miguel A. Martin, Rafael Garesse, Henrik Ahlenius, M. Esther Gallardo
Published 2020-04-01