ID   XWHNi002-A
AC   CVCL_D0Q2
DR   BioSamples; SAMEA112859424
DR   hPSCreg; XWHNi002-A
DR   Wikidata; Q123033943
RX   PubMed=37356183;
CC   From: Department of Neurology, Xuan Wu Hospital; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=37356183).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C146894; Familial Alzheimer's disease, type 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37356183; DOI=10.1016/j.scr.2023.103149;
RA   Sun W.-X., Wang P., Gong J., Chen Y.-F., Yang Y.-T., Luan H.-Y.,
RA   Li S.-Q., Li R.-N., Wei C.-B.;
RT   "Generation of induced pluripotent stem cell line (XWHNi002-A) from a
RT   female with APP gene mutation.";
RL   Stem Cell Res. 71:103149-103149(2023).
//