PRJNA825590
Modeling the de novo mutation of AKT3E17K in Hemimegalencephaly using human embryonic stem cell derived brain organoids
Hemimegalencephaly (HME) caused by somatic mutations commences abnormal cerebral hemisphere expansion and cortical dysplasia, yet how de novo mutations in certain cells cause substantial hemisphere enlargement remains unclear. Through introducing AKT3E17K mutation into human embryonic stem cells (hESC), we can successfully model the mosaic of mutant and nonmutant cells in HME patients using hESC-derived cerebral organoids.