ID   LCSBi001-A
AC   CVCL_YD64
SY   VPS35 1_2; VPS35 Clone 33
DR   BioSamples; SAMEA6673733
DR   hPSCreg; LCSBi001-A
DR   Wikidata; Q95981963
RX   CelloPub=CLPUB00553;
RX   PubMed=32387898;
CC   From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 13487; VPS35; Simple; p.Asp620Asn (c.1858G>A); ClinVar=VCV000030196; Zygosity=Heterozygous (CelloPub=CLPUB00553; PubMed=32387898).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C201520; Parkinson disease 17
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   76Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 05-10-23; Version: 8
//
RX   CelloPub=CLPUB00553;
RA   Larsen S.;
RT   "Phenotypic characterization of cellular models of VPS35-associated
RT   mutation in Parkinson's disease.";
RL   Thesis PhD (2019), University of Luxembourg, Luxembourg.
//
RX   PubMed=32387898; DOI=10.1016/j.scr.2020.101776;
RA   Larsen S.B., Hanss Z., Cruciani G., Massart F., Barbuti P.A.,
RA   Mellick G., Kruger R.;
RT   "Induced pluripotent stem cell line (LCSBi001-A) derived from a
RT   patient with Parkinson's disease carrying the p.D620N mutation in
RT   VPS35.";
RL   Stem Cell Res. 45:101776-101776(2020).
//