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; 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 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: 10-04-25; Version: 12
//
RX   PubMed=31786474; DOI=10.1016/j.scr.2019.101657;
RA   Chen, Mu-Wan
RA   Maimaitili, Muyesier
RA   Buchholdt, Susanne Hvolbol
RA   Jensen, Uffe Birk
RA   Febbraro, Fabia
RA   Denham, Mark
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).
//