ID   PUMCi003-A
AC   CVCL_C0HA
SY   PUMC-iPS-PSEN1-1115M
DR   hPSCreg; PUMCi003-A
DR   Wikidata; Q114312741
RX   PubMed=35421846;
CC   From: Peking Union Medical College; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Glu363Gln (c.1087G>C); Zygosity=Heterozygous (PubMed=35421846).
CC   Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35421846; DOI=10.1016/j.scr.2022.102769;
RA   Zhu W.-W., Zhou Y., Wang Q.-Y., Li J., Chu S.-S., Jin W., Mao C.-H.,
RA   Dong L.-L., Gao J., Xu Q.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line from
RT   skin fibroblasts of a patient carrying an E363Q mutation in PSEN1
RT   gene.";
RL   Stem Cell Res. 61:102769-102769(2022).
//