title: Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.
abstract: Human iPSC line Oex2054SV.4 was generated from fibroblasts of a patient with an optic atrophy 'plus' phenotype associated with a heterozygous mutation in the OPA1 gene. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non-integrative methodology that involves the use of Sendai virus.
authors.affiliation: Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols" (UAM-CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i+12"), Madrid, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Galera-Monge
authors.affiliation: Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols" (UAM-CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i+12"), Madrid, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Zurita-Díaz
authors.affiliation: Instituto de Investigación Hospital 12 de Octubre ("i+12"), Madrid, Spain; Servicio de Genética, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Moreno-Izquierdo
authors.affiliation: Nanomaterials and Nanotechnology Research Center (CINN-CSIC), Spain.
authors.forename: Mario F
authors.initials: MF
authors.lastname: Fraga
authors.affiliation: Cancer Epigenetics Laboratory, Institute of Oncology of Asturias (IUOPA), HUCA, Universidad de Oviedo, Oviedo, Spain.
authors.forename: Agustin F
authors.initials: AF
authors.lastname: Fernández
authors.affiliation: Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Department of Genetics, Instituto de Investigación Sanitaria-University Hospital Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.affiliation: Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols" (UAM-CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i+12"), Madrid, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Garesse
authors.affiliation: Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols" (UAM-CSIC), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i+12"), Madrid, Spain. Electronic address: egallardo@iib.uam.es.
authors.forename: M Esther
authors.initials: ME
authors.lastname: Gallardo
mesh_terms: D001483:Base Sequence; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000166:cytology*; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D000090062:Kruppel-Like Factor 4; D008297:Male; D008856:Microscopy, Fluorescence; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D014157:Transcription Factors; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human