ID   PUMCHi014-A
DR   hPSCreg; PUMCHi014-A
DR   Wikidata; Q107116681
RX   PubMed=33857831;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 23198; CYP4V2; Simple; c.802-8_810del17insGC (IVS6-8 del/insGC); ClinVar=VCV000039271; Zygosity=Heterozygous (PubMed=33857831).
CC   Sequence variation: Mutation; HGNC; 23198; CYP4V2; Simple; p.Trp340Ter (c.1020G>A); ClinVar=VCV000039248; Zygosity=Heterozygous (PubMed=33857831).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C179299; Bietti crystalline corneoretinal dystrophy
DI   ORDO; Orphanet_41751; Bietti crystalline dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
RX   PubMed=33857831; DOI=10.1016/j.scr.2021.102330;
RA   Wu S.-J., Zhu T., Sun Z.-X., Wei X., Han X.-X., Zou X., Sui R.-F.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   Bietti crystalline corneoretinal dystrophy patient with CYP4V2
RT   mutations.";
RL   Stem Cell Res. 53:102330-102330(2021).