ID   GIBHi006-A
AC   CVCL_YT03
SY   PARKIN-C253Y-C2
DR   hPSCreg; GIBHi006-A
DR   Wikidata; Q93561151
RX   PubMed=32387897;
CC   From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
CC   Sequence variation: Homozygous for PRKN p.Cys253Tyr (c.758G>A) (ClinVar=VCV000645725) (PubMed=32387897).
CC   Derived from sampling site: Skin.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_YT04 ! GIBHi006-B
OI   CVCL_YT05 ! GIBHi006-C
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 02-07-20; Version: 2
//
RX   PubMed=32387897; DOI=10.1016/j.scr.2020.101822;
RA   Tariq M., Liu H., Ibanez D.P., Li Y., 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).
//