Cellosaurus logo
expasy logo

Cellosaurus EURACi012-A (CVCL_C0FD)

[Text][XML][JSON]
Cell line name EURACi012-A
Synonyms iPS AD#4
Accession CVCL_C0FD
Resource Identification Initiative To cite this cell line use: EURACi012-A (RRID:CVCL_C0FD)
Comments From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex7del; Zygosity=Heterozygous (PubMed=35121197).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=35121197; DOI=10.1016/j.scr.2022.102692
Maria Paulina Castelo Rueda, Valentina Gilmozzi, Diana Anna Riekschnitz, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon;
Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in parkin (PRKN) and two non-carriers from the same family.
Stem Cell Res. 60:102692-102692(2022)

Cross-references
Cell line databases/resources hPSCreg; EURACi012-A
Encyclopedic resources Wikidata; Q112929546
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5