ID   EURACi012-A
AC   CVCL_C0FD
SY   iPS AD#4
DR   hPSCreg; EURACi012-A
DR   Wikidata; Q112929546
RX   PubMed=35121197;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 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   68Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
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RX   PubMed=35121197; DOI=10.1016/j.scr.2022.102692;
RA   Castelo Rueda, Maria Paulina
RA   Gilmozzi, Valentina
RA   Riekschnitz, Diana Anna
RA   Di Segni, Marina
RA   Silipigni, Rosamaria
RA   Pramstaller, Peter P.
RA   Hicks, Andrew A.
RA   Pichler, Irene
RA   Zanon, Alessandra
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).
//