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Cellosaurus JTUi005-A (CVCL_A0JP)

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Cell line name JTUi005-A
Accession CVCL_A0JP
Resource Identification Initiative To cite this cell line use: JTUi005-A (RRID:CVCL_A0JP)
Comments From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=62 GGC repeats (PubMed=36244083).
  • Mutation; HGNC; HGNC:53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=100 GGC repeats (PubMed=36244083).
Disease Neuronal intranuclear inclusion disease (NCIt: C122655)
Neuronal intranuclear inclusion disease (ORDO: Orphanet_2289)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=36244083; DOI=10.1016/j.scr.2022.102938
Yu-Wen Cao, Wo-Tu Tian, Li Cao, Wen-Lu Lv, Lan Zheng, Xing-Hua Luan;
Generation of an induced pluripotent stem cell JTUi005-A from a patient with neuronal intranuclear inclusion disease.
Stem Cell Res. 65:102938-102938(2022)

Cross-references
Cell line databases/resources hPSCreg; JTUi005-A
Biological sample resources BioSamples; SAMEA9213771
Encyclopedic resources Wikidata; Q108820570
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6