A Novel EBF2 Nonsense Variant Drives Adipose Tissue Fibrosis and Dysfunction in Partial Lipodystrophy Syndrome
RNA-seq (gene expression) · human · 11 samples
- What it is
- RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
- Organism
- Homo sapiens (human)
- Samples
- 11 samples: 3 × Human Pre-adipocytes, empty lentivirus+GFP, differentiated vs 3 × Human Pre-adipocytes, EBF2 (1-164)_lentivirus+GFP, differentiated vs 3 × Human Pre-adipocytes, control_no-lentivirus, differentiated vs 2 × Human Pre-adipocytes, EBF2-full_lentivirus+GFP, differentiatedGroups are read from the sample names, not from the paper. Check the list below.
- Data you can get
- A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
- Paper
- EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunctionThe Journal of clinical investigation · 2026
Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.
Processed table
The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.
Supplementary files
The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE288824_RAW.tar (it can run to tens of gigabytes).
Raw sequencing reads
The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.
What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.
Also filed as BioProject PRJNA1219568 and SRA study SRP561764. Searching any of these in the dataset finder brings you back here.
Supports a between-group comparison across 11 samples.
How we read this: 4 replicated groups read from 11 sample titles; they account for 11 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.
- GSM8776108 Human Pre-adipocytes, empty lentivirus+GFP, differentiated-1 Human Pre-adipocytes, e…
- GSM8776109 Human Pre-adipocytes, empty lentivirus+GFP, differentiated-2 Human Pre-adipocytes, e…
- GSM8776110 Human Pre-adipocytes, empty lentivirus+GFP, differentiated-3 Human Pre-adipocytes, e…
- GSM8776111 Human Pre-adipocytes, EBF2 (1-164)_lentivirus+GFP, differentiated-1 Human Pre-adipocytes, E…
- GSM8776112 Human Pre-adipocytes, EBF2 (1-164)_lentivirus+GFP, differentiated-2 Human Pre-adipocytes, E…
- GSM8776113 Human Pre-adipocytes, EBF2 (1-164)_lentivirus+GFP, differentiated-3 Human Pre-adipocytes, E…
- GSM8776114 Human Pre-adipocytes, EBF2-full_lentivirus+GFP, differentiated-1 Human Pre-adipocytes, E…
- GSM8776115 Human Pre-adipocytes, EBF2-full_lentivirus+GFP, differentiated-2 Human Pre-adipocytes, E…
- GSM8776116 Human Pre-adipocytes, control_no-lentivirus, differentiated-1 Human Pre-adipocytes, c…
- GSM8776117 Human Pre-adipocytes, control_no-lentivirus, differentiated-2 Human Pre-adipocytes, c…
- GSM8776118 Human Pre-adipocytes, control_no-lentivirus, differentiated-3 Human Pre-adipocytes, c…
- GSE310542 A single-nucleus dataset sampling subcutaneous white adipose from living donors to study familial partial lipodystrophy 2 30 samples shares lipodystrophy, adipose, partial
- GSE282757 Evidence of a gut-adipose-liver axis: microbiota encroachment in metabolic dysfunction-associated steatotic liver disease 39 samples shares dysfunction, adipose
- GSE269929 Single nucleus RNA-sequencing integrated into risk variant colocalization discovers 17 cell-type-specific abdominal obesity genes for metabolic dysfunction-associated steatotic liver disease [ATAC-seq] 24 samples shares dysfunction, variant
- GSE336982 Obesity Promotes Lung Carcinogenesis Through Airway Immune Dysfunction 183 samples shares dysfunction
- GSE261070 Dysfunctional neutrophil Type 1 interferon responses in preschool children with recurrent wheezing and IL-4-mediated aeroallergen sensitization 134 samples shares dysfunction
- GSE261892 Australian Chronic Allograft Dysfunction III 123 samples shares dysfunction
- GSE281797 Transcriptomic profiles of liver biopsies in obese patients with metabolic dysfunction-associated steatotic liver disease 94 samples shares dysfunction
- GSE261258 Human regulatory memory B cells defined by expression of TIM-1 and TIGIT are dysfunctional in Multiple Sclerosis. 89 samples shares dysfunction
Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.