ID   KIOMi001-A
AC   CVCL_VN34
SY   SK-C-SNCA-iPSC
DR   Wikidata; Q94339573
RX   PubMed=29906669;
CC   From: Korea Institute of Oriental Medicine; Daejeon; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:11138; SNCA; Simple_corrected; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous; Note=By homologous recombination (PubMed=29906669).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
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RX   PubMed=29906669; DOI=10.1016/j.scr.2018.06.002;
RA   Lee S.-Y., Jeong S., Kim J., Chung S.-K.;
RT   "Generation of gene-corrected iPSC line from Parkinson's disease
RT   patient iPSC line with alpha-SNCA A53T mutation.";
RL   Stem Cell Res. 30:145-149(2018).
//