ID   ZZUi010-A
AC   CVCL_QZ49
SY   ZZU-iPS-AD-APP-001
DR   BioSamples; SAMEA104494110
DR   hPSCreg; ZZUi010-A
DR   Wikidata; Q54996171
RX   PubMed=29156377;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=29156377).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29156377
ST   Amelogenin: X
ST   CSF1PO: 10,13
ST   D13S317: 10,13
ST   D16S539: 9,12
ST   D21S11: 30,34.2
ST   D5S818: 9,11
ST   D7S820: 11
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 17,18
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   52Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29156377; DOI=10.1016/j.scr.2017.10.025;
RA   Wang Z.-L., Zhang P., Wang Y.-L., Shi C.-H., Jing N., Sun H.-F.,
RA   Yang J., Liu Y.-T., Wen X.-J., Zhang J., Zhang S.-T., Xu Y.-M.;
RT   "Establishment of induced pluripotent stem cell line (ZZUi010-A) from
RT   an Alzheimer's disease patient carrying an APP gene mutation.";
RL   Stem Cell Res. 25:213-216(2017).
//