GEO series

B-Domain deleted Factor VIII exhibits notable differences in intracellular processing and cellular responses when compared to full length Factor VIII

GSE269207 Homo sapiens (human) Single-cell RNA-seq 22 samples Submitted 2026/06/30 Platform GPL16791Platform GPL20301

At a glance

Single-cell RNA-seq · human · 22 samples

What it is: Single-cell RNA-seqGene activity measured in thousands of individual cells, so cell types can be told apart. Read from the summary: GEO's own type field only says 'expression profiling by sequencing', so confirm it in the paper.
Organism: Homo sapiens (human)
Samples: 22 samples: 22 samples, each with a distinct title — no replicated groupsGroups 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.

Summary (written by the submitters)

Background: Gene therapy for the treatment of hemophilia A have achieved good results. However, major problem is the lack of sustainability of FVIII blood levels; also no data on the cellular response of the targeted cells is available. Hepatocytes targeting and use of B-domain-deleted F8, are two non-natural phenomena that could be linked to the decrease of FVIII-blood-levels over time, this strongly demand a thorough investigation of the suspected mechanisms at the cellular level.

Read the full summary ↓

Aim: The aims of this study are to compare the cellular trafficking and response to different forms (FL vs BDD) and to levels of expression and secretion of FVIII in the cells. Method: we established single cells HEK293 clones expressing various levels of full-length or B-domain-deleted-FVIII. We studied the correlations between FVIII copy number and levels of expression, secretion and storage as well as homeostatic cellular parameters like ATPs level, cellular proliferation, intracellular markers co-segregation and co-localization with FVIII. Effect of cells treatment with Chloroquine, Cyclohexamid, glucose deficiency and BFA were determined. In addition, we performed 3´RNA-seq for expression profiling. Results: Our results show differences in expression/copy (higher in BDD), secretion (higher in BDD) and intracellular storage (higher in FL) between BDD and FL clones. The cellular proliferation rate was higher in FL while ATP was higher in BDD clones. Chloroquine treatment lowered secretion in FL clones but not in BDDs, while starvation, Cyclohexamid and BFA had similar effect. The co-localisations of cellular markers with FVIII show reduced presence of FVIII BDD in ER/ERGIC/GABARAP and GAPARAPL1/Lysosome while higher at GABARAPL2 and LC3B vesicles is observed. Bioinformatic analysis confirmed the cellular phenotype as differentially activated pathways and processes include organization of cytoplasm, energy, stress and proliferation related. Finally, expression association with level of secretion potentials showed clear dose effect but absence of overlaps between BDD and FL clones, indicating clear divergence of response to overexpression of BDD and FL-FVIII. Conclusions: Our data indicate intrinsic differences/effects in cellular response between BDD and FL FVIII expression/secretion.

This dataset

Open GSE269207 in finder → Find more human RNA-seq datasets →

Download · which file do I need?

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.

1 · Just have a look

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.

Series matrix ↓

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE269207_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓

3 · Start from the raw reads

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.

Raw reads on ENA ↗

What the files usually look like: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1120570 and SRA study SRP512082. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

22 samples, each with a distinct title — no replicated groups

Any grouping that defines a comparison lives in the sample characteristics, which GEO records separately from the titles.

How we read this: Read from 22 sample titles: 22 distinct titles with little repetition. 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.

Samples in this study

GSM8308599 Sample 1_oldbdd 2 a
GSM8308600 Sample 2_FL 4 a
GSM8308601 Sample 3_FL 10 b
GSM8308602 Sample 4_bdd 13 a
GSM8308603 Sample 5_FL 7 b
GSM8308604 Sample 6_bdd 7 a
GSM8308605 Sample 7_bdd 27 b
GSM8308606 Sample 8_HEK 28 b
GSM8308607 Sample 9_FL 10 a
GSM8308608 Sample 10_bdd 12 b
GSM8308609 Sample 11_FL 7 a
GSM8308610 Sample 12_bdd 1 b
GSM8308611 Sample 13_bdd 27 a
GSM8308612 Sample 14_HEK 28 a
GSM8308613 Sample 15_FL 9 b
GSM8308614 Sample 16_bdd 12 a
GSM8308615 Sample 17_oldbdd 2 b
GSM8308616 Sample 18_FL 4 b
GSM8308617 Sample 19_bdd 1 a
GSM8308618 Sample 20_bdd 13 b
GSM8308619 Sample 21_FL 9 a
GSM8308620 Sample 22_bdd 7 b

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