ID   CV-hIPS-B-APP-E693A clone 3d9
AC   CVCL_VR53
SY   GM25430-APP-E693A clone 3d9; 3d9
DR   Wikidata; Q93460584
RX   PubMed=30686764;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple_edited; p.Glu693Ala (c.2078_2079AA>CC); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=30686764).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1N86 ! CV-hIPS-B
SX   Male
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 12
//
RX   PubMed=30686764; DOI=10.1016/j.stem.2018.12.013; PMCID=PMC6414424;
RA   van der Kant R., Langness V.F., Herrera C.M., Williams D.A.,
RA   Fong L.K., Leestemaker Y., Steenvoorden E., Rynearson K.D.,
RA   Brouwers J.F., Helms J.B., Ovaa H., Giera M., Wagner S.L., Bang A.G.,
RA   Goldstein L.S.B.;
RT   "Cholesterol metabolism is a druggable axis that independently
RT   regulates Tau and amyloid-beta in iPSC-derived Alzheimer's disease
RT   neurons.";
RL   Cell Stem Cell 24:363-375.e9(2019).
//