ID   FFF-051
AC   CVCL_C9IC
SY   FFF0592011
DR   Wikidata; Q123031277
RX   PubMed=37524028;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Gln456Ter (c.1366C>T); ClinVar=VCV000002415; Zygosity=Homozygous (PubMed=37524028).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Age unspecified
CA   Finite cell line
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37524028; DOI=10.1016/j.scr.2023.103175;
RA   Larsen L.J., Moller L.B.;
RT   "Generation of induced pluripotent stem cells, KCi004-A derived from a
RT   male with Parkinson's disease and homozygous for the PINK1 variant
RT   c.1366C > T, p.Gln456.";
RL   Stem Cell Res. 71:103175-103175(2023).
//