Human stem cell modeling in neurofibromatosis type 1 (NF1)

Michelle L. Wegscheid, Corina Anastasaki, David H. Gutmann

Research output: Contribution to journalReview article

10 Scopus citations

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.

Original languageEnglish
Pages (from-to)270-280
Number of pages11
JournalExperimental Neurology
Volume299
DOIs
StatePublished - Jan 2018

Keywords

  • Microglia
  • NF1
  • Neurodevelopment
  • Neurofibroma
  • Optic pathway glioma
  • Retinal ganglion cell
  • Stem cell
  • Tumor
  • iPSC

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