ID   GIBHi003-A
AC   CVCL_YC26
SY   PINK1-I368N-C2
DR   BioSamples; SAMEA6114046
DR   hPSCreg; GIBHi003-A
DR   Wikidata; Q93561145
RX   PubMed=31778937;
CC   From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Ile368Asn (c.1103T>A); dbSNP=rs774647122; Zygosity=Homozygous (PubMed=31778937).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EZ44 ! ND40066
SX   Male
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31778937; DOI=10.1016/j.scr.2019.101607;
RA   Abdul M.M., Ibanez D.P., Zhao P., Liu H., Zhong X.-F., Li Y.-Y.,
RA   Zhang M., Li W.-J., Li Y.-P., Ward C., Chen S.-H., Wang D.-Y.,
RA   Qin B.-M., Esteban M.A., Wang X.-W., Fan W.-X., Luo Z.-W.;
RT   "Generation of an induced pluripotent stem cell line (GIBHi003-A) from
RT   a Parkinson's disease patient with mutant PINK1 (p.I368N).";
RL   Stem Cell Res. 41:101607-101607(2019).
//