ID   OSRi001-A
AC   CVCL_WN91
SY   PD-OPA1-A495V#72
DR   BioSamples; SAMEA5712221
DR   hPSCreg; OSRi001-A
DR   Wikidata; Q98128383
CC   From: Ospedale San Raffaele; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8140; OPA1; Simple; p.Ala495Val (c.1484C>T); Zygosity=Heterozygous (hPSCreg=OSRi001-A).
CC   Derived from site: In situ; Arm, skeletal muscle; UBERON=UBERON_0001499.
CC   Cell type: Fibroblast of skeletal muscle; CL=CL_0011027.
DI   NCIt; C169000; Optic atrophy 1
DI   NCIt; C26845; Parkinson's 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)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 10
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