ID   P101M3
AC   CVCL_QX13
SY   P101-M3
DR   Wikidata; Q54937218
RX   PubMed=21347327;
CC   Sequence variation: Mutation; HGNC; HGNC:9942; PRPH2; Simple; p.Trp316Gly (c.946T>G); ClinVar=VCV001175304; Zygosity=Unspecified (PubMed=21347327).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
OI   CVCL_QX14 ! P101M6
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=21347327; DOI=10.1371/journal.pone.0017084; PMCID=PMC3037398;
RA   Jin Z.-B., Okamoto S., Osakada F., Homma K., Assawachananont J.,
RA   Hirami Y., Iwata T., Takahashi M.;
RT   "Modeling retinal degeneration using patient-specific induced
RT   pluripotent stem cells.";
RL   PLoS ONE 6:E17084-E17084(2011).
//