SAMN54220127
External Id
North Carolina State University
INSDC center name
2025-12-19T00:00:00Z
INSDC first public
2025-12-19T13:01:22.240Z
INSDC last update
SRS27524470
INSDC secondary accession
live
INSDC status
Model organism or animal
NCBI submission model
Model.organism.animal.1.0
NCBI submission package
SRS27524470
SRA accession
4 months
age
dsh
breed
not collected
collection_date
We described the clinical and morphological features of junctional epidermolysis bullosa in a 4-month-old domestic shorthair kitten and identified the underlying genetic variant. The kitten presented with blistering lesions affecting friction-prone areas of haired skin, mucocutaneous junctions, and oral mucosa. Histopathology revealed extensive subepidermal cleft formation in affected tissues. Whole genome sequencing identified a homozygous two-base pair deletion in exon 7 of COL17A1.
description
junctional epidermolysis bullosa
disease
not collected
geo_loc_name
Felis catus
http://purl.obolibrary.org/obo/NCBITaxon_9685
organism
female
sex
blood
tissue
domestic cat with epidermolysis bullosa
title