ID   ZOCi001-A
AC   CVCL_YC90
DR   BioSamples; SAMEA8050678
DR   hPSCreg; ZOCi001-A
DR   SKIP; SKIP005792
DR   Wikidata; Q98136604
RX   PubMed=32387899;
CC   From: Zhongshan Ophthalmic Center, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Arg526Ter (c.1576C>T) (R457*); ClinVar=VCV000143167; Zygosity=Heterozygous (PubMed=32387899).
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Thr745Met (c.2234C>T) (T676M); ClinVar=VCV000005733; Zygosity=Heterozygous (PubMed=32387899).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32387899; DOI=10.1016/j.scr.2020.101817;
RA   Tang X.-C., Liu X.-Y., Chen Z.-G., Luo L.-X., Liu X.-L., Deng J.,
RA   Li D.W.-C., Liu Y.-Z.;
RT   "Using inducible lentiviral vectors to generate induced pluripotent
RT   stem cell line ZOCi001-A from peripheral blood cells of a patient with
RT   CRB1(-/-) retinitis pigmentosa.";
RL   Stem Cell Res. 45:101817-101817(2020).
//