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Cellosaurus OSRi002-A (CVCL_A1QA)

[Text version]
Cell line name OSRi002-A
Synonyms PD-OPA1-G488R#12
Accession CVCL_A1QA
Resource Identification Initiative To cite this cell line use: OSRi002-A (RRID:CVCL_A1QA)
Comments From: Ospedale San Raffaele; Milan; Italy.
Sequence variations
  • Mutation; HGNC; 8140; OPA1; Simple; p.Gly488Arg (c.1462G>A); ClinVar=VCV000447893; Zygosity=Heterozygous (hPSCreg=OSRi002-A).
Disease Optic atrophy 1 (NCIt: C169000)
Parkinson's disease (NCIt: C26845)
Autosomal dominant optic atrophy, classic form (ORDO: Orphanet_98673)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; OSRi002-A
Encyclopedic resources Wikidata; Q102114692
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6