@article{e0687a1ab7ad49eeab85b8301e11e15e,
title = "Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations",
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.",
keywords = "disease modeling, human iPSCs, neurodevelopment, neurofibromatosis type 1",
author = "Corina Anastasaki and Wegscheid, {Michelle L.} and Kelly Hartigan and Papke, {Jason B.} and Kopp, {Nathan D.} and Jiayang Chen and Olivia Cobb and Dougherty, {Joseph D.} and Gutmann, {David H.}",
note = "Funding Information: This work was supported by an R50 Research Specialist Award from the National Cancer Institute , USA ( 1-R50-CA233164-01 to C.A.), a Young Investigator's Award grant from the Children's Tumor Foundation , USA ( 2018-01-003 to M.L.W.), and a Research Program Award grant from the National Insitute of Neurological Disorders and Stroke , USA ( 1-R35-NS07211-01 to D.H.G.). The GEiC Center at WUSM engineered the hiPSCs and is subsidized by National Cancer Institute, USA Cancer Center Support grant ( P30-CA091842 ). Dr. Gutmann has a licensing agreement for the GFAP-Cre mouse strain with the Tuberous Sclerosis Alliance. Publisher Copyright: {\textcopyright} 2020 The Authors",
year = "2020",
month = apr,
day = "14",
doi = "10.1016/j.stemcr.2020.03.007",
language = "English",
volume = "14",
pages = "541--550",
journal = "Stem Cell Reports",
issn = "2213-6711",
number = "4",
}