ID   EURACi005-A
AC   CVCL_YC01
SY   iPS-2011; iPSC-2011
DR   BioSamples; SAMEA5922750
DR   hPSCreg; EURACi005-A
DR   Wikidata; Q93546841
RX   PubMed=31715428;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3del; Zygosity=Homozygous (PubMed=31715428).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31715428; DOI=10.1016/j.scr.2019.101624;
RA   Zanon A., Riekschnitz D.A., von Troyer M., Volpato C.B., Picard A.,
RA   Cantaloni C., Di Segni M., Silipigni R., Pramstaller P.P., Hicks A.A.,
RA   Pichler I.;
RT   "Generation of an induced pluripotent stem cell line (EURACi005-A)
RT   from a Parkinson's disease patient carrying a homozygous exon 3
RT   deletion in the PRKN gene.";
RL   Stem Cell Res. 41:101624-101624(2019).
//