ID   DANi006-F
AC   CVCL_YJ54
SY   DANi-006F; GBA-006-C6
DR   BioSamples; SAMEA5912477
DR   hPSCreg; DANi006-F
DR   Wikidata; Q93503228
RX   PubMed=31786474;
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; 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; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YJ49 ! DANi006-A
OI   CVCL_YJ50 ! DANi006-B
OI   CVCL_YJ51 ! DANi006-C
OI   CVCL_YJ52 ! DANi006-D
OI   CVCL_YJ53 ! DANi006-E
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 10
//
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).
//