ID   SKLOi002-A
AC   CVCL_C1WN
DR   hPSCreg; SKLOi002-A
DR   Wikidata; Q114313031
RX   PubMed=36191543;
CC   From: State Key Laboratory of Ophthalmology, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9454; PROM1; Simple; p.Glu207Ter (c.619G>T); Zygosity=Homozygous (PubMed=36191543).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36191543; DOI=10.1016/j.scr.2022.102913;
RA   Xu P., Guo F.-Y., Xie B.-B., Zhong X.-F.;
RT   "Generation and characterization of two iPSC lines carrying
RT   heterozygous or homozygous nonsense mutation in PROM1 gene from a
RT   single family.";
RL   Stem Cell Res. 64:102913-102913(2022).
//