ID   JTUi005-A
AC   CVCL_A0JP
DR   BioSamples; SAMEA9213771
DR   hPSCreg; JTUi005-A
DR   Wikidata; Q108820570
RX   PubMed=36244083;
CC   From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=62 GGC repeats (PubMed=36244083).
CC   Sequence variation: Mutation; HGNC; 53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=100 GGC repeats (PubMed=36244083).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C122655; Neuronal intranuclear inclusion disease
DI   ORDO; Orphanet_2289; Neuronal intranuclear inclusion disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=36244083; DOI=10.1016/j.scr.2022.102938;
RA   Cao Y.-W., Tian W.-T., Cao L., Lv W.-L., Zheng L., Luan X.-H.;
RT   "Generation of an induced pluripotent stem cell JTUi005-A from a
RT   patient with neuronal intranuclear inclusion disease.";
RL   Stem Cell Res. 65:102938-102938(2022).
//