ID   GIBHi004-A
AC   CVCL_YT02
SY   PARK7-L10P-C2
DR   BioSamples; SAMEA6592712
DR   hPSCreg; GIBHi004-A
DR   SKIP; SKIP005753
DR   Wikidata; Q93561149
RX   PubMed=32534165;
CC   From: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 16369; PARK7; Simple; p.Leu10Pro (c.29T>C); Zygosity=Homozygous (PubMed=32534165).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   23Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
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RX   PubMed=32534165; DOI=10.1016/j.scr.2020.101845;
RA   Li Y.-P., Ibanez D.P., Fan W.-X., Zhao P., Chen S.-H., Abdul M.M.,
RA   Jiang Y., Fu L.-X., Luo Z.-W., Liu Z.-H., Yang Y.-L., Guo J.-F.,
RA   Volpe G., Kanwal S., Wang D.-Y., Tang B.-S., Li W.-J.;
RT   "Generation of an induced pluripotent stem cell line (GIBHi004-A) from
RT   a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P).";
RL   Stem Cell Res. 46:101845-101845(2020).
//