ID   PUMCHi015-A
DR   hPSCreg; PUMCHi015-A
DR   Wikidata; Q108821190
RX   PubMed=34419747;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Cys934Trp (c.2802T>G); ClinVar=VCV000143179; Zygosity=Heterozygous (PubMed=34419747).
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Arg4187His (c.12560G>A); ClinVar=VCV000865757; Zygosity=Heterozygous (PubMed=34419747).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C85045; Retinitis pigmentosa
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_791; Retinitis pigmentosa
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 16-12-21; Version: 2
RX   PubMed=34419747; DOI=10.1016/j.scr.2021.102502;
RA   Zhu T., Wu S.-J., Sun Z.-X., Wei X., Han X.-X., Zou X., Sui R.-F.;
RT   "Generation of two human induced pluripotent stem cell lines from
RT   patients with biallelic USH2A variants.";
RL   Stem Cell Res. 55:102502-102502(2021).