ID   CSUASOi004-A-1
AC   CVCL_C4SD
DR   hPSCreg; CSUASOi004-A-1
DR   Wikidata; Q116048806
RX   PubMed=36103774;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 15860; PRPF6; Simple_corrected; p.Arg900His (c.2699G>A); ClinVar=VCV000842292; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36103774).
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)
HI   CVCL_YU18 ! CSUASOi004-A
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36103774; DOI=10.1016/j.scr.2022.102911;
RA   Liang Y.-Q., Sun X.-H., Duan C.-W., Zhou Y.-L., Cui Z.-K., Ding C.-C.,
RA   Gu J.-N., Mao S.-R., Ji S.-L., Chan H.-F., Tang S.-B., Chen J.-S.;
RT   "Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from
RT   a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation
RT   in the PRPF6 gene.";
RL   Stem Cell Res. 64:102911-102911(2022).
//