ID   FINi005-A
AC   CVCL_C8SR
SY   PPMI11555.104SNCA.A53T(AAVS1::CAGG-iM.jRCaMP1b)
DR   hPSCreg; FINi005-A
DR   Wikidata; Q123031284
CC   From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian, not Hispanic.
CC   Sequence variation: Mutation; HGNC; 11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198602; Parkinson disease 1, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D5SL ! PPMI.I.1083.2
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
//