Cellosaurus logo
expasy logo

Cellosaurus AIW002-02/PRKN-Y143D (CVCL_E6LA)

[Text version]
Cell line name AIW002-02/PRKN-Y143D
Synonyms PRKN-Y143D/AIW002-02
Accession CVCL_E6LA
Resource Identification Initiative To cite this cell line use: AIW002-02/PRKN-Y143D (RRID:CVCL_E6LA)
Comments From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Simple_edited; p.Tyr143Asp; Zygosity=Unspecified; Note=By CRISPR/Cas9 (C-BIG).
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_C0JY (CBIGi001-A)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Web pages Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1