ID   CV-hIPS-B-APP-E693A clone 2b2
AC   CVCL_VR52
SY   GM25430-APP-E693A clone 2b2; 2b2
DR   Wikidata; Q93460583
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).
//