title: Generation of iPSC lines from a Nijmegen Breakage Syndrome patient.
abstract: Human dermal fibroblasts from a Nijmegen Breakage Syndrome (NBS) patient bearing the 657del5 mutation within the DNA repair gene NIBRIN were used to generate two iPSC-lines (vNBS8-iPS-c1, vNBS8-iPS-c2) by retroviral transduction of OCT4, SOX2, c-MYC and KLF4. Pluripotency was confirmed both in vivo and in vitro.
authors.affiliation: Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Mlody
authors.affiliation: Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany; Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany. Electronic address: James.Adjaye@med.uni-duesseldorf.de.
authors.forename: James
authors.initials: J
authors.lastname: Adjaye
mesh_terms: D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism*; D000090062:Kruppel-Like Factor 4; D009154:Mutation; D049932:Nijmegen Breakage Syndrome