ID   LEIi006-A
AC   CVCL_VN41
SY   1004CRB1iPS6
DR   BioSamples; SAMEA4760627
DR   hPSCreg; LEIi006-A
DR   Wikidata; Q95982054
RX   PubMed=30092450;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Tyr631Cys (c.1892A>G); ClinVar=VCV000636015; Zygosity=Heterozygous (PubMed=30092450).
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Gly850Ser (c.2548G>A); ClinVar=VCV000565382; Zygosity=Heterozygous (PubMed=30092450).
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)
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30092450; DOI=10.1016/j.scr.2018.08.001;
RA   Zhang X., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L.,
RA   De Roach J.N., Chen F.K., McLenachan S.;
RT   "Establishment of an induced pluripotent stem cell line from a
RT   retinitis pigmentosa patient with compound heterozygous CRB1
RT   mutation.";
RL   Stem Cell Res. 31:147-151(2018).
//