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TranscriptomicsDisruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome [multi-omic]
Here, to characterize HVDAS in a developmental setting, we generated cortical brain organoids of 5 control and 5 HVDAS lines and profiled them by single-cell RNA- and ATAC-seq. Organoids were grown for 30 days using the protocol 10.1016/j.stem.2019.08.002. To reduce batch effects and costs, and maxi...
ORGANISM(S): Homo sapiens 
2026-01-27 | E-MTAB-16422 | biostudies-arrayexpress
TranscriptomicsKMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation
Kabuki Syndrome (KS) is a multisystemic rare disorder, characterized by growth delay, distinctive facial features, intellectual disability, and rarely autism spectrum disorder. This condition is mostly caused by de novo mutations of KMT2D, encoding a catalytic subunit of the COMPASS complex involved...
ORGANISM(S): Homo sapiens 
2022-12-25 | E-MTAB-10244 | biostudies-arrayexpress
TranscriptomicsDisruption 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 transcriptio...
ORGANISM(S): Homo sapiens 
2026-01-31 | E-MTAB-15963 | biostudies-arrayexpress
GenomicsKMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation
Kabuki Syndrome (KS) is a multisystemic rare disorder, characterized by growth delay, distinctive facial features, intellectual disability, and rarely autism spectrum disorder. This condition is mostly caused by de novo mutations of KMT2D, encoding a catalytic subunit of the COMPASS complex involved...
ORGANISM(S): Homo sapiens 
2024-06-30 | E-MTAB-10561 | biostudies-arrayexpress
TranscriptomicsDisruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome [ATAC]
This work attempt at characterizing the chromatin accessibility of control and HVDAS lines. We profiled 5 control and 5 HVDAS lines with bulk ATAC-seq, to reconstruct the molecular basis of HVDAS at early stages of development. This data was then integrated with HPTMs and TF ChIP-seq generated from ...
ORGANISM(S): Homo sapiens 
2026-01-26 | E-MTAB-16418 | biostudies-arrayexpress
GenomicsDisruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome [ ChIP-seq ]
This work attempt at characterizing the DNA binding activity of ADNP in healthy lines, HVDAS lines, and ADNP KO lines. We profiled also the epigenomic landscape of the same lines, to reconstruct the molecular basis of HVDAS at early stages of neurodevelopment. We performed ChIP-seq of active enhance...
ORGANISM(S): Homo sapiens 
2026-01-26 | E-MTAB-16527 | biostudies-arrayexpress
TranscriptomicsRNA-seq of human iPSCs derived neural crest stem cells (NCSCs) upon knock-down of BAZ1B (WSTF), including 3 williams beuren syndrome lines, 1 atypical deletion line, and 3 individuals with 7q11.23 duplication syndrome. Each line has been infected with a scramble, or at least one of two short-hairpins (as described in the coupled paper).
In order to dissect the role of BAZ1B in the paradigmatic craniofacial dysmorphisms that characterize Williams Beuren Syndrome and the simmetrical genetically opposite 7q11.23 duplication syndrome(7dupASD), we selected a large cohort of NCSCs lines (4 from WBS patients, 3 from 7dupASD patients and ...
ORGANISM(S): Homo sapiens 
2020-02-29 | E-MTAB-8455 | biostudies-arrayexpress
TranscriptomicsscRNAseq of hiPSC, iMeLC, hPGCLC aggregates and hEGCLC of CTL08A genotype
In this work, hEGCLC have been obtained for the first time from hPGCLC in defined and feeder-free conditions. To study transcriptional changes during the transition from a pluripotent stem cell state to a germ cell identity and back again, we profiled hiPSC, iMeLC, day6 hPGCLC aggregates and hEGCLC ...
ORGANISM(S): Homo sapiens 
2026-02-10 | E-MTAB-15244 | biostudies-arrayexpress
GenomicsEMseq of hiPSC, iMeLC, hPGCLC and hEGCLC of CTL08A genotype
In this work, hEGCLC have been obtained for the first time from hPGCLC in defined and feeder-free conditions. To study epigenetic changes (in terms of DNA methylation) during the transition from a pluripotent stem cell state to a germ cell identity and back again, we profiled hiPSC, iMeLC, day 6 hPG...
ORGANISM(S): Homo sapiens 
2026-02-10 | E-MTAB-15142 | biostudies-arrayexpress
TranscriptomicsLow-pass WGS of hiPSC and hEGCLC samples of CTL08A genotype
Low-pass whole genome sequencing (WGS) of one sample of human induced pluripotent stem cells (hiPSCs) derived from the CTL08A male cell line and three samples of CTL08A human embryonic germ cell-like cells (hEGCLCs) at passage 10 after hPGCLC-hEGCLC conversion.
ORGANISM(S): Homo sapiens 
2026-02-10 | E-MTAB-15528 | biostudies-arrayexpress
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