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;
RX   PubMed=35688132;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 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: 19-12-24; Version: 23
//
RX   PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343;
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).
//
RX   PubMed=35688132; DOI=10.1016/j.cell.2022.05.008; PMCID=PMC9394447;
RA   Hallacli E., Kayatekin C., Nazeen S., Wang X.-H., Sheinkopf Z.,
RA   Sathyakumar S., Sarkar S., Jiang X., Dong X.-J., Di Maio R., Wang W.,
RA   Keeney M.T., Felsky D., Sandoe J., Vahdatshoar A., Udeshi N.D., Mani D.R.,
RA   Carr S.A., Lindquist S.L., De Jager P.L., Bartel D.P., Myers C.L.,
RA   Greenamyre J.T., Feany M.B., Sunyaev S.R., Chung C.-Y., Khurana V.;
RT   "The Parkinson's disease protein alpha-synuclein is a modulator of
RT   processing bodies and mRNA stability.";
RL   Cell 185:2035-2056.e33(2022).
//