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Transcriptomic profiling of L2HGDH-deficient and corrected human neural progenitor cells and neurons

ABSTRACT: L-2-hydroxyglutaric aciduria (L-2HGA) is a neurometabolic disorder caused by mutations in the L2HGDH gene, leading to accumulation of L-2-hydroxyglutarate (L-2HG). To investigate the molecular impact of L2HGDH deficiency, we performed bulk RNA sequencing on neural progenitor cells (NPCs) and neurons derived from patient iPSCs with or without correction of the pathogenic L2HGDH variant. This dataset provides transcriptomic insights into the role of L-2HG in neurodevelopmental processes and offers a resource for exploring gene expression changes associated with L-2HGA.

ORGANISM(S): Homo sapiens

PROVIDER: GSE295010 | GEO | 2025/04/23

REPOSITORIES: GEO

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