ID   ND34391
AC   CVCL_F202
SY   ND34391*E; ND34391*H
DR   Coriell; ND34391
DR   NHCDR; ND34391
DR   SKIP; SKIP001366
DR   SKIP; SKIP004681
DR   Wikidata; Q54929775
RX   PubMed=26651604;
RX   PubMed=27264186;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11138; SNCA; Triplication; Zygosity=Heterozygous (NHCDR=ND34391).
CC   Discontinued: Coriell; ND34391; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198604; Parkinson disease 4, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F204 ! ND27760
SX   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 21
//
RX   PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004;
RA   Schwab A.J., Ebert A.D.;
RT   "Neurite aggregation and calcium dysfunction in iPSC-derived sensory
RT   neurons with Parkinson's disease-related LRRK2 G2019S mutation.";
RL   Stem Cell Reports 5:1039-1052(2015).
//
RX   PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022;
RA   Lin L., Goke J., Cukuroglu E., Dranias M.R., VanDongen A.M.J.,
RA   Stanton L.W.;
RT   "Molecular features underlying neurodegeneration identified through in
RT   vitro modeling of genetically diverse Parkinson's disease patients.";
RL   Cell Rep. 15:2411-2426(2016).
//