{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE330nnn/GSE330762/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Transcriptomics"],"species":["Homo sapiens"],"gds_type":["Expression profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE330762"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Kabuki syndrome type I fibroblast multi-omics dataset: bulk RNA-seq profiles from primary skin fibroblasts","description":"Kabuki syndrome type 1 (KS1) is a rare congenital disorder caused by heterozygous loss-of-function mutations in KMT2D – an H3K4 histone methyltransferase. While KMT2D function during early development is increasingly understood, the transcriptional and chromatin accessibility consequences of its loss in differentiated somatic tissues remain poorly characterized. We present a multi-omic dataset from primary dermal fibroblasts of seven individuals with KS type I and nine unaffected donors. The dataset comprises bulk RNA-seq from sixteen donors (nineteen libraries across two sequencing batches, including three donors sequenced in both batches to assess technical replicability) and ATAC-seq from ten donors (six KS, four controls). All libraries were processed through standardized nf-core pipelines, with differential analyses performed using DESeq2 with RUVSeq batch correction. This resource is intended to facilitate research on Kabuki syndrome type 1 and by expanding the available models for studying the group of mendelian disorders known as chromatinopathies.","dates":{"publication":"2026/07/12"},"accession":"GSE330762","cross_references":{"GSM":["GSM9732280","GSM9732291","GSM9732281","GSM9732292","GSM9732293","GSM9732282","GSM9732283","GSM9732294","GSM9732290","GSM9732288","GSM9732278","GSM9732289","GSM9732279","GSM9732295","GSM9732284","GSM9732296","GSM9732285","GSM9732286","GSM9732287"],"GPL":["21697"],"GSE":["330762"],"taxon":["Homo sapiens"]}}