ID   DANi008-F
AC   CVCL_YJ60
SY   DANi-008F; SNCA-008-C6
DR   BioSamples; SAMEA5912481
DR   hPSCreg; DANi008-F
DR   Wikidata; Q93503248
RX   PubMed=31786474;
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=31786474).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YJ55 ! DANi008-A
OI   CVCL_YJ56 ! DANi008-B
OI   CVCL_YJ57 ! DANi008-C
OI   CVCL_YJ58 ! DANi008-D
OI   CVCL_YJ59 ! DANi008-E
SX   Male
AG   45Y
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).
//