ID   CSUASOi004-A
AC   CVCL_YU18
SY   PRPF6-BiPS
DR   hPSCreg; CSUASOi004-A
DR   SKIP; SKIP005749
DR   Wikidata; Q93459764
RX   PubMed=32335390;
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; p.Arg900His (c.2699G>A); ClinVar=VCV000842292; Zygosity=Heterozygous (PubMed=32335390).
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   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32335390; DOI=10.1016/j.scr.2020.101793;
RA   Zhou Y.-L., Jing Y.-T., Mao S.-R., Liu J., Cui Z.-K., Wang Y.-N.,
RA   Chen J., Chan H.-F., Tang S.-B., Chen J.-S.;
RT   "Establishment of induced pluripotent stem cell line CSUASOi004-A by
RT   reprogramming peripheral blood mononuclear cells of a PRPF6-related
RT   dominant retinitis pigmentosa patient.";
RL   Stem Cell Res. 45:101793-101793(2020).
//
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).
//