ID   TMOi001-A-3
AC   CVCL_B0PI
SY   2B10; NIHi002-A-3
DR   hPSCreg; TMOi001-A-3
DR   Wikidata; Q108821373
RX   PubMed=34419745;
CC   From: National Institutes of Health; Bethesda; USA.
CC   Sequence variation: Mutation; HGNC; 16369; PARK7; Simple_edited; p.Ala111Leufs*7 (c.331delG); Zygosity=Homozygous (PubMed=34419745).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
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)
HI   CVCL_RM92 ! CBiPSC6.2
SX   Female
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 6
//
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).
//