SAMN21901926
External Id
Ophthalmology, State University of New York at Buffalo
INSDC center name
2022-12-22T00:00:00Z
INSDC first public
2022-12-22T02:53:21.787Z
INSDC last update
SRS10374153
INSDC secondary accession
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
SRS10374153
SRA accession
CWI
cell source id
Smith-Lemil-Opitz syndrome (SLOS) cell line
cell type
mild
disease state
compound heterozygous, consisting of 278C>T (T93M) and splicing acceptor variant c.964-1G>C (commonly known as IVS8G-C) point mutations in the DHCR7 gene
genotype
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
induced pluripotent stem cell-derived retinal pigment epithelium
source_name
CWISLOS_2
title