ID   NIHTVBi015-A
AC   CVCL_ZE09
SY   HT188
DR   BioSample; SAMN14510998
DR   hPSCreg; NIHTVBi015-A
DR   Wikidata; Q98127895
RX   PubMed=34419745;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 16369; PARK7; Simple; p.Ala111Leufs*7 (c.331delG); Zygosity=Homozygous (PubMed=34419745).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C198606; Parkinson disease 7, autosomal recessive early-onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=34419745; DOI=10.1016/j.scr.2021.102506;
RA   Mazza M.C., Beylina A., Roosen D.A., Hauser D., Cookson M.R.;
RT   "Generation of iPSC line from a Parkinson patient with PARK7 mutation
RT   and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7
RT   mutation.";
RL   Stem Cell Res. 55:102506-102506(2021).
//