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3 results on '"Francisco Zurita"'

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

Author

Rafael Garesse, Mario F. Fraga, Cristina González-Páramos, Agustín F. Fernández, Ana Moreno-Izquierdo, Francisco Zurita-Díaz, M. Esther Gallardo, Teresa Galera-Monge, UAM. Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' (IIBM), Universidad Autónoma de Madrid, Instituto de Salud Carlos III, European Commission, Centro de Investigación Biomédica en Red Enfermedades Raras (España), and Comunidad de Madrid

Subjects
0301 basic medicine, Medicina, Induced Pluripotent Stem Cells, Cell Culture Techniques, Biology, Cell Line, Human iPSC line, 03 medical and health sciences, stomatognathic system, SOX2, medicine, Humans, Leigh disease, Induced pluripotent stem cell, MT-ATP6 gene, lcsh:QH301-705.5, Gene, Medicine(all), Genetics, fungi, Cell Biology, General Medicine, Mitochondrial Proton-Translocating ATPases, Cellular Reprogramming, medicine.disease, Leigh syndrome, Heteroplasmy, 030104 developmental biology, lcsh:Biology (General), KLF4, embryonic structures, Mutation (genetic algorithm), Mutation, sense organs, Leigh Disease, biological phenomena, cell phenomena, and immunity, Reprogramming, Developmental Biology
Abstract

Human iPSC line L749.1 was generated from fibroblasts of a patient with Leigh syndrome associated with a heteroplasmic mutation in the MT-ATP6 gene. Reprogramming factors OCT4, SOX2, CMYC and KLF4 were delivered using retroviruses., This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (Grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” (FIS PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG cofunded by FEDER), “Comunidad Autónoma de Madrid” (grant number S2010/BMD-2402 to R.G); T.G-M. receives grant support from the Universidad Autónoma de Madrid, FPI-UAM and F.Z-D. from the Ministerio de Educación, Cultura y Deporte, grant number FPU13/00544. M.E.G. is senior staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER).

Published
2016

2. Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene

Author

Francisco Zurita-Díaz, Teresa Galera-Monge, Carmen Ayuso, Agustín F. Fernández, Ana Moreno-Izquierdo, M. Esther Gallardo, Rafael Garesse, Mario F. Fraga, UAM. Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' (IIBM), Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), Ministerio de Educación, Cultura y Deporte (España), Universidad Autónoma de Madrid, European Commission, Comunidad de Madrid, Centro de Investigación Biomédica en Red Enfermedades Raras (España), and Instituto de Salud Carlos III

Subjects
0301 basic medicine, Medicina, Cellular differentiation, DNA Mutational Analysis, Induced Pluripotent Stem Cells, Karyotype, Transfection, Polymorphism, Single Nucleotide, Sendai virus, Cell Line, Mitochondrial Proteins, IPSC line, 03 medical and health sciences, Kruppel-Like Factor 4, Mitochondrial Encephalomyopathies, Humans, Induced pluripotent stem cell, Gene, Transcription factor, Genetics, Medicine(all), biology, Base Sequence, Cell Differentiation, General Medicine, Cell Biology, Fibroblasts, biology.organism_classification, Cellular Reprogramming, Peptide Elongation Factor G, 030104 developmental biology, Microscopy, Fluorescence, Mutations in the GFM1 gene, KLF4, Factor G1, embryonic structures, Cancer research, Female, Reprogramming, Developmental Biology, Plasmids, Transcription Factors, Mitochondrial encephalopathy
Abstract

Human iPSC line GFM1SV.25 was generated from fibroblasts of a child with a severe mitochondrial encephalopathy associated with mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non integrative methodology that involves the use of Sendai virus., This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (Grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and Regional development fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (Grant number S2010/BMD-2402 to RG); TG receives grant support from the Universidad Autónoma de Madrid (FPI-UAM) and FZD from the Ministerio de Educación, Cultura y Deporte (Grant FPU13/00544). MEG is staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER).

Published
2016

3. Generation of a human iPSC line from a patient with a defect of intergenomic communication

Author

Rafael Garesse, Francisco Zurita, Ana Moreno-Izquierdo, Peter Schneiderat, M. Esther Gallardo, Cristina González-Páramos, Mario F. Fraga, Agustín F. Fernández, Teresa Galera, UAM. Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' (IIBM), Instituto de Salud Carlos III, Universidad Autónoma de Madrid, Ministerio de Educación, Cultura y Deporte (España), and Centro de Investigación Biomédica en Red Enfermedades Raras (España)

Subjects
0301 basic medicine, Mitochondrial DNA, Medicina, Cellular differentiation, DNA Mutational Analysis, Induced Pluripotent Stem Cells, Karyotype, DNA-Directed DNA Polymerase, Transfection, medicine.disease_cause, Polymorphism, Single Nucleotide, Sendai virus, Cell Line, IPSC line, Kruppel-Like Factor 4, 03 medical and health sciences, medicine, Humans, Gene (POLG), Induced pluripotent stem cell, Gene, Polymerase, Medicine(all), Genetics, Mutation, Base Sequence, biology, Cell Differentiation, Cell Biology, General Medicine, Cellular Reprogramming, biology.organism_classification, DNA Polymerase gamma, p.Trp748Ser), 030104 developmental biology, Microscopy, Fluorescence, Mutation (c.2243GNC, embryonic structures, PG64SV.2, biology.protein, Female, Reprogramming, Plasmids, Transcription Factors, Developmental Biology
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., This work was supported by grants from the “Centro de Investigación Biomédica en Red en enfermedades raras” (CIBERER) (Grant 13-717/132.05 to RG), the “Instituto de Salud Carlos III” [Fondo de Investigación Sanitaria and Regional development fund (ERDF/FEDER) funds PI10/0703 and PI13/00556 to RG and PI15/00484 to MEG], “Comunidad Autónoma de Madrid” (Grant number S2010/BMD-2402 to RG); TG receives grant support from the Universidad Autónoma de Madrid (FPI-UAM) and FZD from the Ministerio de Educación, Cultura y Deporte (Grant FPU13/00544). MEG is staff scientist at the “Centro de Investigación Biomédica en Red en Enfermedades Raras” (CIBERER).

Published
2016

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