ID   CENSOi026-A
AC   CVCL_WP24
SY   F199c5
DR   hPSCreg; CENSOi026-A
DR   Wikidata; Q93446723
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Arg246Ter (c.736C>T); ClinVar=VCV000002407; Zygosity=Heterozygous (from autologous cell line CENSOi026-C).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex4-6 del; Zygosity=Heterozygous (from autologous cell line CENSOi026-C).
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)
OI   CVCL_WP25 ! CENSOi026-B
OI   CVCL_WP26 ! CENSOi026-C
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 10-04-25; Version: 6
//