ID   K10M5
AC   CVCL_T832
SY   K10-M05; HPS0062
DR   RCB; HPS0062
DR   SKIP; SKIP000134
DR   Wikidata; Q54899244
RX   PubMed=21347327;
CC   Sequence variation: Mutation; 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_QX20 ! K10M15
OI   CVCL_T830 ! K10M17
OI   CVCL_T831 ! K10M19
SX   Male
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 14
//
RX   PubMed=21347327; DOI=10.1371/journal.pone.0017084;
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).
//