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scRNA-seq of cerebral organoids derived from CBP mutant iPSCs

GSE320222 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2026/04/21 Platform GPL34295
Summary
CREB-binding protein (CBP/CREBBP) is a histone acetyltransferase essential for human development. Mutations in CBP are associated with Menke–Hennekam syndrome (MKHK), a neurodevelopmental disorder. To examine the impact of a disease-associated mutation, we performed single-cell RNA sequencing (scRNA-seq) on day 32 cerebral organoids derived from isogenic wild-type and CBP R1868 mutant human induced pluripotent stem cells (iPSCs). This scRNA-seq data captures cellular heterogeneity and gene expression programs during early neurodevelopment and reveals how the CBP R1868W mutation influences lineage specification and transcriptional states in human cerebral organoids.
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Direct links to NCBI, no account and no request form: the whole study as GSE320222_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1427176 and SRA study SRP678795. Searching any of these in the dataset finder brings you back here.

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