ID   DANi007-A
SY   DANi-007A; PINK1-007-C1
DR   BioSamples; SAMEA5912479
DR   hPSCreg; DANi007-A
DR   Wikidata; Q93503230
RX   PubMed=31786474;
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Gln456Ter (c.1366C>T); ClinVar=VCV000002415; Zygosity=Homozygous (PubMed=31786474).
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)
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
RX   PubMed=31786474; DOI=10.1016/j.scr.2019.101657;
RA   Chen M.-W., Maimaitili M., Buchholdt S.H., Jensen U.B., Febbraro F.,
RA   Denham M.;
RT   "Generation of eight human induced pluripotent stem cell lines from
RT   Parkinson's disease patients carrying familial mutations.";
RL   Stem Cell Res. 42:101657-101657(2020).