ID   CSUASOi003-A
AC   CVCL_YU32
SY   CRB1-BiPS
DR   hPSCreg; CSUASOi003-A
DR   SKIP; SKIP005694
DR   Wikidata; Q93459762
RX   PubMed=32244200;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Gly750Asp (c.2249G>A); Zygosity=Heterozygous (PubMed=32244200).
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Ala937Thr (c.2809G>A); ClinVar=VCV000285879; Zygosity=Heterozygous (PubMed=32244200).
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   22Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32244200; DOI=10.1016/j.scr.2020.101742;
RA   Zhou Y.-L., Ding C.-C., Xia S.-T., Jing Y.-T., Mao S.-R., Liu J.,
RA   Chen J., Chan H.-F., Tang S.-B., Chen J.-S.;
RT   "Establishment of induced pluripotent stem cell line CSUASOi003-A
RT   from an autosomal recessive retinitis pigmentosa patient carrying
RT   compound heterozygous mutations in CRB1 gene.";
RL   Stem Cell Res. 44:101742-101742(2020).
//