ID   EDi001-B
AC   CVCL_ZA47
SY   AST18; AST18 iPS cells; Alpha-synuclein triplication 18
DR   BioSamples; SAMEA7111749
DR   EBiSC; EDi001-B
DR   ECACC; 66770007
DR   hPSCreg; EDi001-B
DR   Wikidata; Q98125938
RX   PubMed=21863007;
CC   From: University of Edinburgh; Edinburgh; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11138; SNCA; Triplication; Zygosity=Heterozygous (from parent cell line).
CC   Discontinued: ECACC; 66770007; 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: 02-07-20; Last updated: 30-01-24; Version: 9
//
RX   PubMed=21863007; DOI=10.1038/ncomms1453;
RA   Devine M.J., Ryten M., Vodicka P., Thomson A.J., Burdon T.,
RA   Houlden H., Cavaleri F., Nagano M., Drummond N.J., Taanman J.-W.,
RA   Schapira A.H.V., Gwinn-Hardy K.A., Hardy J., Lewis P.A., Kunath T.;
RT   "Parkinson's disease induced pluripotent stem cells with triplication
RT   of the alpha-synuclein locus.";
RL   Nat. Commun. 2:440.1-440.10(2011).
//