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Genetic modifiers of GFAP expression in mouse models of Alexander disease

ABSTRACT: Genetic modifiers of GFAP expression in mouse models of Alexander disease

PROVIDER: PRJNA808603 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR18076700_1.fastq.gz	Fastqsanger.gz
	SRR18076700_2.fastq.gz	Fastqsanger.gz
	SRR18076701_1.fastq.gz	Fastqsanger.gz
	SRR18076701_2.fastq.gz	Fastqsanger.gz
	SRR18076702_1.fastq.gz	Fastqsanger.gz

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Genetic modifiers of GFAP expression in mouse models of Alexander disease

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Project description:3D-cultured unguided neural and cortical organoids derived from human iPS cells carrying a GFAP (R239C) mutation - an identified cause of Alexander disease (AxD) - and their isogenic controls were analyzed with scRNA-seq to investigate the effect of the GFAP mutation on brain development, cell type composition, and gene expression. Results of this analysis showed impaired astro- and neurogenesis in both types of organoids (unguided and cortical), including a lack of cells acquiring the astrocyte fate, and an increased abundance of cells differentiating into lineages other than neuroectodermal. The results also suggested dysregulation of extracellular matrix, membrane, and cytoskeleton components, which might have also affected their differentiation trajectories.

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