SAMN03075611
External Id
University of Missouri
INSDC center name
2014-09-22T00:00:00Z
INSDC first public
2024-10-27T02:08:01.746Z
INSDC last update
SRS713815
INSDC secondary accession
live
INSDC status
Model organism or animal
NCBI submission model
Model.organism.animal.1.0
NCBI submission package
SRS713815
SRA accession
1.5
age
Dr. Gary Johnson
biomaterial provider
Chinese crested
breed
rescue dog
breeding_history
With written consent from the owner we obtained blood and formalin-fixed brain tissue from a young adult Chinese Crested dog that was euthanized due to progressive neurological decline accompanied by brain atrophy. The clinical signs suggested that neuronal ceroid lipofuscinosis was the underlying disease. DNA was extracted from the blood and used to generate a whole genome sequence(WGS) which provided an opportunity to identify the disease-causing mutation.
description
Neuronal ceroid lipofuscinosis
disease
advanced
disease_stage
Canis lupus familiaris
http://purl.obolibrary.org/obo/NCBITaxon_9615
organism
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
familiaris
http://purl.obolibrary.org/obo/NCBITaxon_9615
sub species
Blood
http://purl.obolibrary.org/obo/UBERON_0000178
tissue
Chinese Crested dog with Neuronal Ceroid Lipofuscinosis
title