About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
Need Help?

Inherited CD28 deficiency in otherwise healthy patients with disseminated warts and giant horns

this dataset corresponds to 3 patient of HPV-driven warts single cell RNA data generated through the 10X genomics platform and aligned on GRCh38 reference using the cell ranger tools.

Request Access

This study presents the analysis of a patient with the HPV-2-driven “tree man” phenotype, and two of his distant relatives with unusually severe HPV4-driven warts. All three patients are homozygous for a private CD28 variant. The data available here are 10X Genomics 3' scRNA-seq data of the three patients.

Further information and request for resources and reagents should be directed to and will be fulfilled by the Lead Contact, Jean-Laurent Casanova (casanova@mail.rockefeller.edu)

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001004837 Transcriptome Analysis

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Quality Report
Located in
i
EGAF00004896916 bam 34.5 GB Report
EGAF00004896917 bam 37.9 GB Report
EGAF00004896918 bam 33.9 GB Report
EGAF00005104194 bam 163.1 MB Report
EGAF00005104195 bam 22.2 GB Report
EGAF00005104196 bam 22.2 GB Report
EGAF00005104197 bam 17.0 GB Report
EGAF00005104198 bam 25.0 GB Report
EGAF00005104199 bam 229.2 MB Report
9 Files (193.3 GB)