ID   PNUYHi003-A
AC   CVCL_E8TR
SY   iPN-SC0110
DR   BioSamples; SAMEA117737656
DR   hPSCreg; PNUYHi003-A
RX   PubMed=40267536;
CC   From: iPSC and neurodegenerative disease center, Pusan National University Yangsan Hospital; Yangsan; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:53924; NOTCH2NLC; Simple; c.-164GGC[(66_517)]; ClinVar=VCV000691867; Zygosity=Heterozygous; Note=75 GGC repeats (PubMed=40267536).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=40267536
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 9,12
ST   D16S539: 12
ST   D18S51: 14,19
ST   D19S433: 13,16.2
ST   D21S11: 32.2
ST   D2S1338: 19,23
ST   D3S1358: 15
ST   D5S818: 9,11
ST   D7S820: 10,11
ST   D8S1179: 12,13
ST   FGA: 21,23
ST   TH01: 7,9
ST   TPOX: 8,9
ST   vWA: 14,19
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   75Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=40267536; DOI=10.1016/j.scr.2025.103717;
RA   Kim, Tae-Yun
RA   Kim, Mi Kyoung
RA   Mizuguchi, Takeshi
RA   Matsumoto, Naomichi
RA   Lee, Jae-Hyeok
RA   Kim, Eun-Joo
RA   Jung, Na-Yeon
RT   "Generation of an induced pluripotent stem cell line (PNUYHi003-A)
RT   from peripheral blood mononuclear cells of a patient with neuronal
RT   intranuclear inclusion disease.";
RL   Stem Cell Res. 86:103717-103717(2025).
//