Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations

Corina Anastasaki, Michelle L. Wegscheid, Kelly Hartigan, Jason B. Papke, Nathan D. Kopp, Jiayang Chen, Olivia Cobb, Joseph D. Dougherty, David H. Gutmann

Research output: Contribution to journalArticle

Abstract

To critically evaluate NF1 mutational equivalency in human brain cells, Anastasaki and colleagues generated an isogenic series of seven human induced pluripotent stem cell lines harboring different NF1 patient NF1 mutations. Although all mutations increased 2D NPC and astrocyte RAS activity and cell proliferation, distinct NF1 mutations had differential effects on NPC proliferation, apoptosis and neuronal differentiation within 3D cerebral organoids.

Original languageEnglish
Pages (from-to)541-550
Number of pages10
JournalStem Cell Reports
Volume14
Issue number4
DOIs
StatePublished - Apr 14 2020

Keywords

  • disease modeling
  • human iPSCs
  • neurodevelopment
  • neurofibromatosis type 1

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