ID   LEIi016-B
AC   CVCL_A8MH
SY   1418ips6
DR   hPSCreg; LEIi016-B
DR   Wikidata; Q108820783
RX   PubMed=34034222;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Ile852Thr (c.2555T>C); ClinVar=VCV000099883; Zygosity=Heterozygous (PubMed=34034222).
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Asp1005Val (c.3014A>T); ClinVar=VCV000846589; Zygosity=Heterozygous (PubMed=34034222).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_A8MG ! LEIi016-A
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 17-03-22; Version: 3
//
RX   PubMed=34034222; DOI=10.1016/j.scr.2021.102403;
RA   Moon S.Y., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A.,
RA   McLaren T.L., De Roach J.N., Chen F.K., McLenachan S.;
RT   "Generation of two induced pluripotent stem cell lines from a
RT   retinitis pigmentosa patient with compound heterozygous mutations in
RT   CRB1.";
RL   Stem Cell Res. 54:102403-102403(2021).
//