Cellosaurus logo
expasy logo

Cellosaurus FINi002-A (CVCL_C8H8)

[Text version]
Cell line name FINi002-A
Synonyms FI.CPLT.PRKN.R275W+del_e8.PK006
Accession CVCL_C8H8
Resource Identification Initiative To cite this cell line use: FINi002-A (RRID:CVCL_C8H8)
Comments From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=37890334).
  • Mutation; HGNC; 8607; PRKN; Unexplicit; Ex8del; Zygosity=Heterozygous (PubMed=37890334).
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)
Hierarchy Children:
CVCL_C8SS (FINi002-A-1)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=37890334; DOI=10.1016/j.scr.2023.103211
Pavan C., Jin J., Jong S., Strbenac D., Davis R.L., Sue C.M., Johnston J., Lynch T., Halliday G.M., Kirik D., Parish C.L., Thompson L.H., Ovchinnikov D.A.
Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene.
Stem Cell Res. 73:103211-103211(2023)

Cross-references
Cell line databases/resources hPSCreg; FINi002-A
Biological sample resources BioSamples; SAMEA112835223
Encyclopedic resources Wikidata; Q123031280
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2