ID K10M17 AC CVCL_T830 SY K10-M17; HPS0104 DR RCB; HPS0104 DR SKIP; SKIP000135 DR Wikidata; Q54899242 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_T832 ! K10M5 OI CVCL_QX20 ! K10M15 OI CVCL_T831 ! K10M19 SX Male AG 39Y 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:e17084.1-e17084.8(2011). //