ID   KCi005-A
AC   CVCL_D6L6
SY   Pink1 P0947, clone Cl11B; Pink1-Cl11B-P0947
DR   hPSCreg; KCi005-A
RX   PubMed=38103334;
CC   From: Kennedy Centret, Rigshospitalet; Glostrup; Denmark.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; p.Gln456Ter (c.1366C>T); ClinVar=VCV000002415; Zygosity=Homozygous (PubMed=38103334).
CC   Omics: Deep exome analysis.
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   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 02-05-24; Version: 1
//
RX   PubMed=38103334; DOI=10.1016/j.scr.2023.103279;
RA   Larsen L.J., Hjermind L.E., Moller L.B.;
RT   "Generation of induced pluripotent stem cells, KCi005-A derived from a
RT   female with Parkinsons disease and homozygous for the PINK1 variant
RT   c.1366C > T, p.Gln456.";
RL   Stem Cell Res. 74:103279-103279(2024).
//