ID   PNUYHi002-A
AC   CVCL_D6J6
SY   iPN-P12A
DR   BioSamples; SAMEA114523472
DR   hPSCreg; PNUYHi002-A
DR   Wikidata; Q127383130
RX   PubMed=38437769;
CC   From: iPSC and neurodegenerative disease center; Yangsan; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 9449; PRNP; Simple; p.Met232Arg (c.695T>G); ClinVar=VCV000013406; Zygosity=Heterozygous (PubMed=38437769).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2866; Alzheimer's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38437769; DOI=10.1016/j.scr.2024.103361;
RA   Kim M.K., Kim Y., Lee N., Moon H.-J., Lee J.-H., Kim E.-J., Kim Y.J.,
RA   Kim J.-H., Jung N.-Y.;
RT   "Generation of an induced pluripotent stem cell line (PNUYHi002-A)
RT   from a patient with Alzheimer's disease carrying PRNP M232R
RT   variant.";
RL   Stem Cell Res. 76:103361-103361(2024).
//