ID   ZZUi007-A
DR   BioSamples; SAMEA4760684
DR   hPSCreg; ZZUi007-A
DR   Wikidata; Q98136659
RX   PubMed=30237140;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 21645; CHCHD2; Simple; p.Thr61Ile (c.182C>T); ClinVar=VCV000218882; Zygosity=Heterozygous (PubMed=30237140).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 9
RX   PubMed=30237140; DOI=10.1016/j.scr.2018.08.011;
RA   Wang Y.-L., Wang Z.-L., Sun H.-F., Mao C.-Y., Yang J., Liu Y.-T.,
RA   Liu H., Zhang S.-T., Zhang J., Xu Y.-M., Shi C.-H.;
RT   "Generation of induced pluripotent stem cell line (ZZUi007-A) from a
RT   52-year-old patient with a novel CHCHD2 gene mutation in Parkinson's
RT   disease.";
RL   Stem Cell Res. 32:87-90(2018).