ID   PUMCHi018-A
AC   CVCL_B5S6
SY   SRF-RDH12-01
DR   hPSCreg; PUMCHi018-A
DR   Wikidata; Q112041632
RX   PubMed=35016144;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 19977; RDH12; Simple; p.Arg62Ter (c.184C>T); ClinVar=VCV000002050; Zygosity=Heterozygous (PubMed=35016144).
CC   Sequence variation: Mutation; HGNC; 19977; RDH12; Simple; p.Val146Asp (c.437T>A); ClinVar=VCV000841398; Zygosity=Heterozygous (PubMed=35016144).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35016144; DOI=10.1016/j.scr.2022.102655;
RA   Zou X., Wu S.-J., Zhu T., Sun Z.-X., Wei X., Li W.-J., Sui R.-F.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (PUMCHi018-A) from an early-onset severe retinal dystrophy patient
RT   with RDH12 mutations.";
RL   Stem Cell Res. 59:102655-102655(2022).
//