ID   OSRi003-A
AC   CVCL_A1QB
SY   PD-OPA1-G488R#22
DR   hPSCreg; OSRi003-A
DR   Wikidata; Q102114693
CC   From: Ospedale San Raffaele; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Gly488Arg (c.1462G>A); ClinVar=VCV000447893; Zygosity=Heterozygous (hPSCreg=OSRi003-A).
DI   NCIt; C169000; Optic atrophy 1
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_98673; Autosomal dominant optic atrophy, classic form
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 8
//