ID   FJMUUHi001-A
AC   CVCL_A1WA
DR   BioSamples; SAMEA7211865
DR   hPSCreg; FJMUUHi001-A
DR   Wikidata; Q105506873
RX   PubMed=33485186;
CC   From: Fujian Medical University Union Hospital; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:16369; PARK7; Simple; p.Glu64Argfs*5 (c.189dupA); ClinVar=VCV000623671; Zygosity=Homozygous (PubMed=33485186).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33485186; DOI=10.1016/j.scr.2021.102175;
RA   Chen Z.-T., Zhao Z.-H., Chen L.-N., Fan F., Cai G.-E., Weng H.-D.,
RA   Wang Y.-Q., Liao L.-M., Chen X.-C., Huang E., Ye Q.-Y.;
RT   "Generation of an induced pluripotent stem cell line, FJMUUHi001-A,
RT   from a hereditary Parkinson's disease patient with homozygous mutation
RT   of c.189dupA in PARK7.";
RL   Stem Cell Res. 51:102175-102175(2021).
//