ID   ZZUi020-A
AC   CVCL_A3ZH
SY   ZZU-iPS-PD-NOTCH2NLC-001
DR   hPSCreg; ZZUi020-A
DR   Wikidata; Q105511879
RX   PubMed=33626493;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=51 GGC repeats (PubMed=33626493).
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
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33626493; DOI=10.1016/j.scr.2021.102257;
RA   Fan Y., Liu F., Fan L.-Y., Mao C.-Y., Liu H., Zhang C., Yuan Y.-P.,
RA   Yang J., Wang Y.-L., Liu Y.-T., Shi C.-H., Xu Y.-M.;
RT   "Generation of an induced pluripotent stem cell line (ZZUi020-A) from
RT   a patient with Parkinson's disease harboring the intermediate-length
RT   GGC repeat expansions in the NOTCH2NLC gene.";
RL   Stem Cell Res. 52:102257-102257(2021).
//