Homo sapiens
isolate
USH2C Patient
age
57
biomaterial_provider
van Wijk Group,Radboud University Medical Center, Nijmegen
collection_date
2021-06-03
geo_loc_name
Netherlands
sex
male
tissue
Skin fibroblasts
disease
Usher syndrome type 2C
disease_stage
severe retinal dysfunction and hearing impairment
karyotype
ADGRV1; Chr5(GRCh37):g.90006848C>T; NM_032119.3:c.8875C>T (p.(Arg2959*)); homozygote (Position in CDS)
treatment
Replicate 3
BioSampleModel
Human