title: Generation of a human iPSC line from a patient with a defect of intergenomic communication.
abstract: Human iPSC line PG64SV.2 was generated from fibroblasts of a patient with a defect of intergenomic communication. This patient harbored a homozygous mutation (c.2243G>C; p.Trp748Ser) in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma gene (POLG). Reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered using a non integrative methodology that involves the use of Sendai virus.
authors.affiliation: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols ", Facultad de Medicina (UAM-CSIC), Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i + 12"), Madrid, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Zurita
authors.affiliation: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols ", Facultad de Medicina (UAM-CSIC), Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i + 12"), Madrid, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Galera
authors.affiliation: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols ", Facultad de Medicina (UAM-CSIC), Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i + 12"), Madrid, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: González-Páramos
authors.affiliation: Servicio de Genética, Hospital 12 de Octubre, Madrid, Spain; Instituto de Investigación Hospital 12 de Octubre ("i + 12"), Madrid, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Moreno-Izquierdo
authors.affiliation: Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Schneiderat
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: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols ", Facultad de Medicina (UAM-CSIC), Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (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, Instituto de Investigaciones Biomédicas "Alberto Sols ", Facultad de Medicina (UAM-CSIC), Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (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; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D000090062:Kruppel-Like Factor 4; D008856:Microscopy, Fluorescence; D010957:Plasmids / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014162:Transfection
chemical_list: C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D014157:Transcription Factors; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human