ID   IDVi001-A
AC   CVCL_QX82
SY   NR2E3-86-iPS; iPS-NR2E3-86
DR   BioSamples; SAMEA994012
DR   hPSCreg; IDVi001-A
DR   Wikidata; Q54897303
RX   PubMed=29034877;
CC   From: Institut de la Vision; Paris; France.
CC   Sequence variation: Mutation; HGNC; 7974; NR2E3; Simple; p.Gly56Arg (c.166G>A); ClinVar=VCV000005533; Zygosity=Heterozygous (PubMed=29034877).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29034877; DOI=10.1016/j.scr.2017.08.003;
RA   Terray A., Slembrouck-Brec A., Nanteau C., Chondroyer C., Zeitz C.,
RA   Sahel J.-A., Audo I., Reichman S., Goureau O.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   patient with autosomal dominant retinitis pigmentosa due to a mutation
RT   in the NR2E3 gene.";
RL   Stem Cell Res. 24:1-4(2017).
//