ID   GIBHi006-C
AC   CVCL_YT05
SY   PARKIN-C253Y-C4
DR   hPSCreg; GIBHi006-C
DR   SKIP; SKIP005806
DR   Wikidata; Q93561157
RX   PubMed=32387897;
CC   From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Cys253Tyr (c.758G>A); ClinVar=VCV000645725; Zygosity=Homozygous (PubMed=32387897).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YT03 ! GIBHi006-A
OI   CVCL_YT04 ! GIBHi006-B
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32387897; DOI=10.1016/j.scr.2020.101822;
RA   Tariq M., Liu H., Ibanez D.P., Li Y.-P., Chen S.-H., Jiang M.-L.,
RA   Fan W.-X., Zhao P., Luo Z.-W., Wang D.-Y., Kanwal S.;
RT   "Generation of three induced pluripotent stem cell lines from a
RT   Parkinson's disease patient with mutant PARKIN (p.C253Y).";
RL   Stem Cell Res. 45:101822-101822(2020).
//