ERS24087002
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Vici Syndrome
http://purl.obolibrary.org/obo/NCIT_C138174
disease state
SAMEA12877432
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Cataracts
http://purl.obolibrary.org/obo/MONDO_0005129
phenotype
Brain abnormalities
http://purl.obolibrary.org/obo/HP_0012443
phenotype
Mild hypertrophic cardiomyopathy
phenotype
Severe myopathy/hypotonia
phenotype
Failure to thrive
phenotype
Optic atrophy
phenotype
Unable to follow verbal commands
phenotype
Facial dysmorphism
phenotype
MRI showed multiple lesions including pontocerebellar hyperplasia, asgenesis of corpus callosum, and decreased myelination
phenotype
Obstructive sleep apnea
http://www.ebi.ac.uk/efo/EFO_0003918
phenotype
Chronic lung disease
phenotype
Seizures
phenotype
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
GM27291
synonym
Induced Pluripotent Stem Cell Line CIMRi001-A
title