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Cellosaurus OSRi001-A (CVCL_WN91)

[Text version]

Cell line name OSRi001-A
Synonyms PD-OPA1-A495V#72
Accession CVCL_WN91
Resource Identification Initiative To cite this cell line use: OSRi001-A (RRID:CVCL_WN91)
Comments From: Ospedale San Raffaele; Milano; Italy.
Population: Caucasian.
Derived from sampling site: Arm; skeletal muscle.
Sequence variations Mutation; HGNC; 8140; OPA1; Simple; p.Ala495Val (c.1484C>T); Zygosity=Heterozygous (hPSCreg).
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)
Sex of cell Male
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; OSRi001-A
Biological sample resources BioSamples; SAMEA5712221
Encyclopedic resources Wikidata; Q98128383
Entry history
Entry creation05-Jul-2019
Last entry update23-Sep-2021
Version number6