Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation

ABSTRACT: Malformations of human cortical development (MCD) can cause severe disabilities. The lack of human-specific models hampers our understanding of the molecular underpinnings of the intricate processes leading to MCD. Here, we use cerebral organoids derived from patients and genome edited induced pluripotent stem cells to address pathophysiological changes associated with a complex MCD caused by mutations in the Echinoderm microtubule-associated protein-like 1 (EML1) gene. EML1-deficient organoids display ectopic neural rosettes at the basal side of the ventricular zone areas and clusters of heterotopic neurons. Single-cell RNA sequencing shows an upregulation of basal radial glial (RG) markers and human-specific extracellular matrix components in the ectopic cell population. Gene ontology an

SUBMITTER: Ammar Jabali 

PROVIDER: S-SCDT-EMBOR-2021-54027-T | biostudies-other |

REPOSITORIES: biostudies-other