title: Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
abstract: Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); CIBERER Biobank, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO-Salud Pública), Valencia, Spain.
authors.forename: Salvador
authors.initials: S
authors.lastname: Martí
authors.affiliation: Departamento de Biología Celular, Biología Funcional y Antropología Física, Universidad de Valencia, 46100 Burjassot, Spain.
authors.forename: Marian
authors.initials: M
authors.lastname: León
authors.affiliation: Unidad Genética, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Orellana
authors.affiliation: Departamento de Biología Celular, Biología Funcional y Antropología Física, Universidad de Valencia, 46100 Burjassot, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Prieto
authors.affiliation: Departamento de Biología Celular, Biología Funcional y Antropología Física, Universidad de Valencia, 46100 Burjassot, Spain.
authors.forename: Xavier
authors.initials: X
authors.lastname: Ponsoda
authors.affiliation: Departamento de Biología Celular, Biología Funcional y Antropología Física, Universidad de Valencia, 46100 Burjassot, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: López-García
authors.affiliation: Unidad de Investigación Neuromuscular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: Juan Jesús
authors.initials: JJ
authors.lastname: Vílchez
authors.affiliation: Unidad de Investigación Neuromuscular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Sevilla
authors.affiliation: Departamento de Biología Celular, Biología Funcional y Antropología Física, Universidad de Valencia, 46100 Burjassot, Spain. Electronic address: josema.torres@uv.es.
authors.forename: Josema
authors.initials: J
authors.lastname: Torres
mesh_terms: D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005822:Genetic Vectors / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D000090062:Kruppel-Like Factor 4; D008297:Male; D008856:Microscopy, Fluorescence; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D029082:Sendai virus / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C118663:GDAP protein; C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D009419:Nerve Tissue Proteins; D014157:Transcription Factors