Transcriptomics

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Generation and characterization of NGLY1 patient-derived midbrain organoids


ABSTRACT: NGlY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global developmental delay, motor disorder, and liver dysfunction. To better understand disease pathogensis and neurological symptoms of NGLY1 deficiency we generated and characterized midbrain organoids using patient-derived iPSCs from two patients with disease causing mutations.

ORGANISM(S): Homo sapiens

PROVIDER: GSE224294 | GEO | 2023/02/03

REPOSITORIES: GEO

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