title: Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation.
abstract: In this work we describe for the first time the generation and characterization of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMCs) and dermal fibroblasts of a Primary Hyperoxaluria Type I (PH1)-diagnosed patient with p.I244T mutation, which is highly prevalent in Canary Islands due to founder effect. Cell reprogramming was performed using non-integrative Sendai viruses containing the Yamanaka factors and the generated PH1-hiPSC lines (PH1-PBMCs-hiPSC4F1 and PH1-Fib-hiPSC4F1) showed normal karyotypes, silencing of the exogenous reprogramming factors, induction of the typical pluripotency-associated markers and in vivo differentiation ability to the three germ layers.
authors.affiliation: Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
authors.forename: Natalia
authors.initials: N
authors.lastname: Zapata-Linares
authors.affiliation: Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
authors.forename: Saray
authors.initials: S
authors.lastname: Rodriguez
authors.affiliation: Hospital Universitario de Canarias, Universidad La Laguna, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Salido
authors.affiliation: Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
authors.forename: Gloria
authors.initials: G
authors.lastname: Abizanda
authors.affiliation: Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Iglesias
authors.affiliation: Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain; Area of Cell Therapy, Clínica Universidad de Navarra, University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.
authors.forename: Felipe
authors.initials: F
authors.lastname: Prosper
authors.affiliation: Gene Therapy and Regulation of Gene Expression Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain. Electronic address: ggasegui@unav.es.
authors.forename: Gloria
authors.initials: G
authors.lastname: Gonzalez-Aseguinolaza
authors.affiliation: Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain. Electronic address: jrrodriguez@unav.es.
authors.forename: Juan R
authors.initials: JR
authors.lastname: Rodriguez-Madoz
mesh_terms: D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005434:Flow Cytometry; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000378:metabolism / Q000473:pathology*; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008297:Male; D008856:Microscopy, Fluorescence; D010957:Plasmids / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D000637:Transaminases / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014162:Transfection
chemical_list: D014157:Transcription Factors; D000637:Transaminases; C019635:Alanine-glyoxylate transaminase