ID   PUMCHi019-A
DR   BioSamples; SAMEA12789792
DR   hPSCreg; PUMCHi019-A
DR   Wikidata; Q112041633
RX   PubMed=35152176;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8140; OPA1; Simple; p.Ser269Pro (c.805T>C); ClinVar=VCV001185094; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35152176).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C169000; Optic atrophy 1
DI   ORDO; Orphanet_98673; Autosomal dominant optic atrophy, classic form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
RX   PubMed=35152176; DOI=10.1016/j.scr.2022.102705;
RA   Sun Z.-X., Wu S.-J., Zhu T., Wei X., Han X.-X., Zou X., Sui R.-F.;
RT   "Generation of a human induced pluripotent stem cell line PUMCHi019-A
RT   from a dominant optic atrophy patient with an OPA1 mutation.";
RL   Stem Cell Res. 60:102705-102705(2022).