ID   EURACi010-A
AC   CVCL_C0FB
SY   iPS BD#5
DR   hPSCreg; EURACi010-A
DR   Wikidata; Q112929544
RX   PubMed=35121197;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Unexplicit; Ex7del; Zygosity=Heterozygous (PubMed=35121197).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   Male
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35121197; DOI=10.1016/j.scr.2022.102692;
RA   Castelo Rueda M.P., Gilmozzi V., Riekschnitz D.A., Di Segni M.,
RA   Silipigni R., Pramstaller P.P., Hicks A.A., Pichler I., Zanon A.;
RT   "Generation and characterization of induced pluripotent stem cell
RT   (iPSC) lines of two asymptomatic individuals carrying a heterozygous
RT   exon 7 deletion in parkin (PRKN) and two non-carriers from the same
RT   family.";
RL   Stem Cell Res. 60:102692-102692(2022).
//