Article
Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.
Stem cell reports - 14 Apr 2020
Anastasaki Corina, Wegscheid Michelle L, Hartigan Kelly, Papke Jason B, Kopp Nathan D, Chen Jiayang, Cobb Olivia, Dougherty Joseph D, Gutmann David H
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder caused by a spectrum of distinct germline NF1 gene mutations, traditionally viewed as equivalent loss-of-function alleles. To specifically address the issue of mutational equivalency in a disease with considerable clinical heterogeneity, we engineered seven isogenic human induced pluripotent stem cell lines, each with a different NF1 patient...
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