Cellosaurus logo
expasy logo

Cellosaurus FINi002-A-1 (CVCL_C8SS)

[Text version]
Cell line name FINi002-A-1
Synonyms FI.PK006(AAVS1::CAGG-iM.jRCaMP1b)
Accession CVCL_C8SS
Resource Identification Initiative To cite this cell line use: FINi002-A-1 (RRID:CVCL_C8SS)
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 (from parent cell line).
  • Mutation; HGNC; 8607; PRKN; Unexplicit; Ex8del; Zygosity=Heterozygous (from parent cell line).
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 Parent: CVCL_C8H8 (FINi002-A)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; FINi002-A-1
Encyclopedic resources Wikidata; Q123031281
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2