ID   STBCi083-A
AC   CVCL_RD28
SY   SFC830-04-09; A53T3.2
DR   BioSamples; SAMEA104493856
DR   EBiSC; STBCi083-A
DR   ECACC; 66540838
DR   GEO; GSM2392431
DR   GEO; GSM2392486
DR   hPSCreg; STBCi083-A
DR   Wikidata; Q54970179
RX   PubMed=28827786;
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=28827786).
CC   Omics: Transcriptomics; Microarray.
CC   Discontinued: ECACC; 66540838; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A8X9 ! SF830
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 14
//
RX   PubMed=28827786; DOI=10.1038/s41598-017-09362-3; PMCID=PMC5567139;
RA   Haenseler, Walther
RA   Zambon, Federico
RA   Lee, Heyne
RA   Vowles, Jane
RA   Rinaldi, Federica
RA   Duggal, Galbha
RA   Houlden, Henry
RA   Gwinn-Hardy, Katrina Ann
RA   Wray, Selina
RA   Luk, Kelvin C.
RA   Wade-Martins, Richard
RA   James, William S.
RA   Cowley, Sally Anne
RT   "Excess alpha-synuclein compromises phagocytosis in iPSC-derived
RT   macrophages.";
RL   Sci. Rep. 7:9003.1-9003.11(2017).
//