ID   LEIi005-B
AC   CVCL_WJ45
SY   RP1ips6
DR   hPSCreg; LEIi005-B
DR   Wikidata; Q95982053
RX   PubMed=31059986;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10263; RP1; Simple; p.Glu700Ter (c.2098G>T); Zygosity=Heterozygous (PubMed=31059986).
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)
OI   CVCL_VE62 ! LEIi005-A
SX   Female
AG   76Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31059986; DOI=10.1016/j.scr.2019.101452;
RA   Zhang X., Moon S.Y., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A.,
RA   McLaren T.L., De Roach J.N., McLenachan S., Chen F.K.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with retinitis pigmentosa caused by RP1 mutation.";
RL   Stem Cell Res. 37:101452-101452(2019).
//