ERS24107827
SRA accession
induced pluripotent stem cell
http://www.ebi.ac.uk/efo/EFO_0004905
cell type
Retinitis pigmentosa
http://www.orpha.net/ORDO/Orphanet_791
disease state
SAMEA3275858
donor id
cell line
http://www.ebi.ac.uk/efo/EFO_0000322
material
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
decreased central vision by 30 years old
phenotype
current visual acuity - no perception of light right eye t and 6/18 left
phenotype
Retinitis Pigmentosa
phenotype
bilateral extensive bone spicule pigmentation
phenotype
presented with night blindness at 10 years old
phenotype
right optic nerve hypoplasia
phenotype
Age of onset: 10 years old
phenotype
attenuated arterioles and pale optic discs
phenotype
visual field restricted to around 5 degrees from fixation
phenotype
EBiSC
project
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
PRPF31 SH
synonym
Induced Pluripotent Stem Cell Line UNEWi004-A
title