ID   PUMCi006-A
AC   CVCL_D0KH
SY   PUMC-iPS-PSEN2-LSM
DR   BioSamples; SAMEA113557271
DR   hPSCreg; PUMCi006-A
DR   Wikidata; Q123033284
RX   PubMed=38531230;
CC   From: Peking Union Medical College; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9509; PSEN2; Simple; p.Met239Thr (c.716T>C); Zygosity=Heterozygous (PubMed=38531230).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
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RX   PubMed=38531230; DOI=10.1016/j.scr.2024.103391;
RA   Zhu W.-W., Zhou J.-J., Shang L., Zhou Y., Wang Q.-Y., Yu Y.-S.,
RA   Dong L.-L., Mao C.-H., Chu S.-S., Jin W., Li J., Gao J.;
RT   "Generation and characterization of an iPS cell line (PUMCi006-A) from
RT   skin fibroblasts of a patient with an M239T mutation in PSEN2 gene.";
RL   Stem Cell Res. 77:103391-103391(2024).
//