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

doi:10.1016/j.stemcr.2020.03.007

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 journal › Article › peer-review

55 Scopus citations

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 language	English
Pages (from-to)	541-550
Number of pages	10
Journal	Stem Cell Reports
Volume	14
Issue number	4
DOIs	https://doi.org/10.1016/j.stemcr.2020.03.007
State	Published - Apr 14 2020

Keywords

disease modeling
human iPSCs
neurodevelopment
neurofibromatosis type 1

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10.1016/j.stemcr.2020.03.007

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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.",

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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.}",

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AU - Anastasaki, Corina

AU - Wegscheid, Michelle L.

AU - Hartigan, Kelly

AU - Papke, Jason B.

AU - Kopp, Nathan D.

AU - Chen, Jiayang

AU - Cobb, Olivia

AU - Dougherty, Joseph D.

AU - Gutmann, David H.

PY - 2020/4/14

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N2 - 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.

AB - 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.

KW - disease modeling

KW - human iPSCs

KW - neurodevelopment

KW - neurofibromatosis type 1

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ER -

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

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