ID   DANi004-A
AC   CVCL_XJ24
SY   DANi-004A; PRKN-004-C1
DR   BioSamples; SAMEA5912473
DR   hPSCreg; DANi004-A
DR   Wikidata; Q93503206
RX   PubMed=31786474;
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Cys253Tyr (c.758G>A); ClinVar=VCV000645725; 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; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
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).
//