title: Human stem cell modeling in neurofibromatosis type 1 (NF1).
abstract: The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression. In this review, we discuss the generation and potential applications of iPSC technology to the study of NF1.
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States.
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Wegscheid
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States.
authors.forename: Corina
authors.initials: C
authors.lastname: Anastasaki
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States. Electronic address: gutmannd@wustl.edu.
authors.forename: David H
authors.initials: DH
authors.lastname: Gutmann
mesh_terms: D000818:Animals; D000076103:Biological Variation, Individual; D001921:Brain / Q000254:growth & development; D001932:Brain Neoplasms / Q000209:etiology / Q000628:therapy; D000067470:Cellular Reprogramming Techniques / Q000379:methods; D004195:Disease Models, Animal; D004354:Drug Screening Assays, Antitumor; D005544:Forecasting; D016514:Genes, Neurofibromatosis 1; D018095:Germ-Line Mutation; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout; D008959:Models, Neurological; D009416:Nerve Regeneration; D018317:Nerve Sheath Neoplasms / Q000209:etiology / Q000473:pathology / Q000628:therapy; D065886:Neurodevelopmental Disorders / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D009455:Neurofibroma / Q000209:etiology / Q000473:pathology / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D025542:Neurofibromin 1 / Q000172:deficiency; D020339:Optic Nerve Glioma / Q000235:genetics / Q000473:pathology / Q000628:therapy; D009940:Organoids; D057285:Precision Medicine / Q000379:methods* / Q000639:trends
chemical_list: D025542:Neurofibromin 1
keywords: Microglia; NF1; Neurodevelopment; Neurofibroma; Optic pathway glioma; Retinal ganglion cell; Stem cell; Tumor; iPSC