ID   DANi003-H
AC   CVCL_XJ39
SY   DANi-003H; GBA-003-C8
DR   BioSamples; SAMEA5912471
DR   hPSCreg; DANi003-H
DR   Wikidata; Q93503203
RX   PubMed=31786474;
CC   From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; 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_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XJ32 ! DANi003-A
OI   CVCL_XJ33 ! DANi003-B
OI   CVCL_XJ34 ! DANi003-C
OI   CVCL_XJ35 ! DANi003-D
OI   CVCL_XJ36 ! DANi003-E
OI   CVCL_XJ37 ! DANi003-F
OI   CVCL_XJ38 ! DANi003-G
SX   Male
AG   56Y
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).
//