ID   K11M4
AC   CVCL_T833
SY   K11-M4; HPS0107
DR   RCB; HPS0107
DR   SKIP; SKIP000137
DR   Wikidata; Q54899247
RX   PubMed=21347327;
CC   Sequence variation: Mutation; HGNC; HGNC:10288; RP9; Simple; p.His137Leu (c.410A>T); ClinVar=VCV000003334; 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_T834 ! K11PD17
OI   CVCL_T835 ! K11PD18
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 15
//
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).
//