ID   XWHNi001-A
AC   CVCL_B5GR
DR   BioSamples; SAMEA10329923
DR   hPSCreg; XWHNi001-A
DR   Wikidata; Q110434432
RX   PubMed=35149456;
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=Homozygous (PubMed=35149456).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=35149456
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D12S391: 15,18
ST   D13S317: 8,11
ST   D16S539: 9
ST   D18S51: 15,22
ST   D19S433: 14,15.2
ST   D21S11: 29,30
ST   D2S1338: 23,24
ST   D2S441: 11
ST   D3S1358: 16
ST   D5S818: 11
ST   D6S1043: 17,19
ST   D7S820: 11,13
ST   D8S1179: 12,13
ST   FGA: 20,23
ST   Penta D: 6,9
ST   Penta E: 12,20
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 16,18
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   58Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35149456; DOI=10.1016/j.scr.2022.102690;
RA   Wei C.-B., Lu X.-L., Zou Q., Gong S.-T., Chen Y.-F., Lyu J.-H.,
RA   Jia J.-P.;
RT   "Generation and characterization of a human induced pluripotent stem
RT   cell line (XWHNi001-A) derived from an Alzheimer's disease patient
RT   with mutation in the APP gene.";
RL   Stem Cell Res. 60:102690-102690(2022).
//