ID   CIBi013-A
AC   CVCL_C6TL
SY   DJ-1_c.334C>G
DR   hPSCreg; CIBi013-A
DR   Wikidata; Q117704252
RX   PubMed=36469984;
CC   From: Cell Inspire Biotechnology; Shenzhen; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 16369; PARK7; Simple; p.Leu122Val (c.334C>G); Zygosity=Homozygous (PubMed=36469984).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198606; Parkinson disease 7, autosomal recessive early-onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36469984; DOI=10.1016/j.scr.2022.102983;
RA   Li L.-F., Si X.-L., Lei M., Yang J.-Y., Ruan J., Liu H.-F.,
RA   Huang F.-F., Jin X.-X., Xie K.-Y., Yang H., Lei X.-G., Liu Y.;
RT   "Generation of a human iPSC line (CIBi013-A) from a patient with
RT   young-onset Parkinson's disease carrying a novel homozygous PARK7
RT   (DJ-1) mutation.";
RL   Stem Cell Res. 66:102983-102983(2023).
//