ID   FINi002-A
AC   CVCL_C8H8
SY   FI.CPLT.PRKN.R275W+del_e8.PK006
DR   BioSamples; SAMEA112835223
DR   hPSCreg; FINi002-A
DR   Wikidata; Q123031280
RX   PubMed=37890334;
CC   From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=37890334).
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Unexplicit; Ex8del; Zygosity=Heterozygous (PubMed=37890334).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37890334; DOI=10.1016/j.scr.2023.103211;
RA   Pavan C., Jin J., Jong S., Strbenac D., Davis R.L., Sue C.M.,
RA   Johnston J., Lynch T., Halliday G.M., Kirik D., Parish C.L.,
RA   Thompson L.H., Ovchinnikov D.A.;
RT   "Generation of the iPSC line FINi002-A from a male Parkinson's disease
RT   patient carrying compound heterozygous mutations in the PRKN gene.";
RL   Stem Cell Res. 73:103211-103211(2023).
//