ID   CENSOi024-A
AC   CVCL_WP22
SY   F213c1
DR   hPSCreg; CENSOi024-A
DR   Wikidata; Q93446720
WW   https://axolbio.com/shop/disease-models/parkinsons-disease-censoi024-a/
CC   From: Axol Bioscience Ltd. (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Trp90Leufs*12 (c.268_283del); ClinVar=VCV003242199; Zygosity=Heterozygous (Axol).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (Axol).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 5
//