ID   STBCi025-A
AC   CVCL_RB82
SY   SFC834-03-01
DR   BioSamples; SAMEA104493656
DR   EBiSC; STBCi025-A
DR   ECACC; 66540691
DR   hPSCreg; STBCi025-A
DR   Wikidata; Q54956405
RX   PubMed=26905200;
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=26905200).
CC   Discontinued: ECACC; 66540691; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RB83 ! STBCi025-B
OI   CVCL_RB84 ! STBCi025-C
SX   Male
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 15
//
RX   PubMed=26905200; DOI=10.1016/j.stemcr.2016.01.013; PMCID=PMC4788783;
RA   Fernandes, Hugo J.R.
RA   Hartfield, Elizabeth M.
RA   Christian, Helen C.
RA   Emmanoulidou, Evangelia
RA   Zheng, Ying
RA   Booth, Heather
RA   Bogetofte, Helle
RA   Lang, Charmaine
RA   Ryan, Brent J.
RA   Sardi, S. Pablo
RA   Badger, Jennifer
RA   Vowles, Jane
RA   Evetts, Samuel
RA   Tofaris, George K.
RA   Vekrellis, Kostas
RA   Talbot, Kevin
RA   Hu, Michele T.
RA   James, William S.
RA   Cowley, Sally Anne
RA   Wade-Martins, Richard
RT   "ER stress and autophagic perturbations lead to elevated extracellular
RT   alpha-synuclein in GBA-N370S Parkinson's iPSC-derived dopamine
RT   neurons.";
RL   Stem Cell Reports 6:342-356(2016).
//