ID   EURACi014-A
AC   CVCL_C0FA
SY   iPS 1.1; iPS-1.1
DR   hPSCreg; EURACi014-A
DR   Wikidata; Q112929548
RX   PubMed=35189566;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=35189566).
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)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35189566; DOI=10.1016/j.scr.2022.102713;
RA   Gilmozzi V., Gentile G., Riekschnitz D.A., Volpato C.B., Di Segni M.,
RA   Silipigni R., Pramstaller P.P., Hicks A.A., Pichler I., Zanon A.;
RT   "Generation of an induced pluripotent stem cell line (EURACi014-A)
RT   from a Parkinson's disease patient with an A53T mutation in the SNCA
RT   gene by an integration-free reprogramming method.";
RL   Stem Cell Res. 60:102713-102713(2022).
//