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Cellosaurus PNUYHi003-A (CVCL_E8TR)

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Cell line name PNUYHi003-A
Synonyms iPN-SC0110
Accession CVCL_E8TR
Resource Identification Initiative To cite this cell line use: PNUYHi003-A (RRID:CVCL_E8TR)
Comments From: iPSC and neurodegenerative disease center, Pusan National University Yangsan Hospital; Yangsan; South Korea.
Population: Korean.
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=75 GGC repeats (PubMed=40267536).
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 75Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=40267536

Markers:
AmelogeninX,Y
CSF1PO10,12
D2S133819,23
D3S135815
D5S8189,11
D7S82010,11
D8S117912,13
D13S3179,12
D16S53912
D18S5114,19
D19S43313,16.2
D21S1132.2
FGA21,23
TH017,9
TPOX8,9
vWA14,19

Run an STR similarity search on this cell line
Publications

PubMed=40267536; DOI=10.1016/j.scr.2025.103717
Tae-Yun Kim, Mi Kyoung Kim, Takeshi Mizuguchi, Naomichi Matsumoto, Jae-Hyeok Lee, Eun-Joo Kim, Na-Yeon Jung;
Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease.
Stem Cell Res. 86:103717-103717(2025)

Cross-references
Cell line databases/resources hPSCreg; PNUYHi003-A
Biological sample resources BioSamples; SAMEA117737656
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1