ID   A79V-GC-hiPSC
AC   CVCL_A4MY
DR   Wikidata; Q105506041
RX   PubMed=27345973;
RX   PubMed=27879212;
CC   From: University of Copenhagen; Copenhagen; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple_corrected; p.Ala79Val (c.236C>T); ClinVar=VCV000018157; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27879212).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
HI   CVCL_DQ85 ! A79V-hiPSC
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=27345973; DOI=10.1016/j.scr.2016.01.002;
RA   Li T., Pires C., Nielsen T.T., Waldemar G., Hjermind L.E.,
RA   Nielsen J.E., Dinnyes A., Hyttel P., Freude K.K.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from an
RT   Alzheimer's disease patient carrying an A79V mutation in PSEN1.";
RL   Stem Cell Res. 16:229-232(2016).
//
RX   PubMed=27879212; DOI=10.1016/j.scr.2016.08.002;
RA   Pires C., Schmid B., Petraeus C., Poon A., Nimsanor N., Nielsen T.T.,
RA   Waldemar G., Hjermind L.E., Nielsen J.E., Hyttel P., Freude K.K.;
RT   "Generation of a gene-corrected isogenic control cell line from an
RT   Alzheimer's disease patient iPSC line carrying a A79V mutation in
RT   PSEN1.";
RL   Stem Cell Res. 17:285-288(2016).
//