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Cellosaurus EURACi010-A (CVCL_C0FB)

[Text version]
Cell line name EURACi010-A
Synonyms iPS BD#5
Accession CVCL_C0FB
Resource Identification Initiative To cite this cell line use: EURACi010-A (RRID:CVCL_C0FB)
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 69Y
Category Induced pluripotent stem cell
Publications

PubMed=35121197; DOI=10.1016/j.scr.2022.102692
Castelo Rueda M.P., Gilmozzi V., Riekschnitz D.A., Di Segni M., Silipigni R., Pramstaller P.P., Hicks A.A., Pichler I., Zanon A.
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; EURACi010-A
Encyclopedic resources Wikidata; Q112929544
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5