ID   TUSMi008-A
AC   CVCL_UM28
SY   15F0021
DR   BioSamples; SAMEA5912468
DR   hPSCreg; TUSMi008-A
DR   Wikidata; Q98133690
RX   PubMed=30831521;
CC   From: Tongji University School of Medicine; Wuhan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8624; PAXIP1; Simple; p.Gln413_His414insGlnGln (c.1241_1242insGCAGCA); Zygosity=Heterozygous (PubMed=30831521).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2866; Alzheimer's disease
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   76Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30831521; DOI=10.1016/j.scr.2019.101391;
RA   Wang Y., Zhang J., Hu J.-H., Li G., Lei Y., Zhao J.;
RT   "Establishment of TUSMi008-A, an induced pluripotent stem cell (iPSC)
RT   line from a 76-year old Alzheimer's disease (AD) patient with PAXIP1
RT   gene mutation.";
RL   Stem Cell Res. 36:101391-101391(2019).
//