ID   ZZUi036-A
AC   CVCL_C0IH
SY   ZZU-iPS-NIID-NOTCH2NLC-001
DR   BioSamples; SAMEA13855334
DR   hPSCreg; ZZUi036-A
DR   Wikidata; Q112930599
RX   PubMed=35772299;
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=93 GGC repeats (PubMed=35772299).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122655; Neuronal intranuclear inclusion disease
DI   ORDO; Orphanet_2289; Neuronal intranuclear inclusion disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   68Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35772299; DOI=10.1016/j.scr.2022.102844;
RA   Li J.-D., Fan Y., Fan L.-Y., Liu F., Hao X.-Y., Li M.-J., Mao C.-Y.,
RA   Xu Y.-M., Shi C.-H.;
RT   "Generation of an induced pluripotent stem cell line (ZZUi036-A)
RT   derived from skin fibroblasts of a neuronal intranuclear inclusion
RT   disease patient with GGC repeat expansion in the NOTCH2NLC gene.";
RL   Stem Cell Res. 63:102844-102844(2022).
//