Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome

Our experimental workflow was designed to study the role of ADNP in pluripotency and neuronal differentiation. Collectivelty, we profiled 12 iPSC, 2 NSC and 10 cortical brain organoids lines. This dataset contains RNA-seq profiling of iPSC and NSC, respectively capturing patient-derived transcriptional differences between control and ADNP-mutant individuals in pluripotency and transcriptional differences between control and ADNP-KO neural precursors. iPSC were generated by somatic reprogramming of fibroblasts from patients diagnosed with Helsmortel Van-der-Aa syndrome (HVDAS) and NSC were derived from a reference line. Both the NSC line, one control and one HVDAS lines were genetically engineered to carry a FLAG-tag at the n-terminus of ADNP coding sequence, to allow the profiling of ADNP DNA-binding activity through chromatin immunoprecipitation followed by sequencing (ChIP-seq).