ID   APP1E311
AC   CVCL_RN68
SY   APP1E 311
DR   Wikidata; Q54750320
RX   PubMed=23434393;
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple; p.Glu693del (c.2079_2081delAGA); Zygosity=Homozygous (PubMed=23434393).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C146894; Alzheimer's disease 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RN66 ! APP1E111
OI   CVCL_RN67 ! APP1E211
SX   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 10
//
RX   PubMed=23434393; DOI=10.1016/j.stem.2013.01.009;
RA   Kondo T., Asai M., Tsukita K., Kutoku Y., Ohsawa Y., Sunada Y.,
RA   Imamura K., Egawa N., Yahata N., Okita K., Takahashi K., Asaka I.,
RA   Aoi T., Watanabe A., Watanabe K., Kadoya C., Nakano R., Watanabe D.,
RA   Maruyama K., Hori O., Hibino S., Choshi T., Nakahata T., Hioki H.,
RA   Kaneko T., Naitoh M., Yoshikawa K., Yamawaki S., Suzuki S., Hata R.,
RA   Ueno S.-i., Seki T., Kobayashi K., Toda T., Murakami K., Irie K.,
RA   Klein W.L., Mori H., Asada T., Takahashi R., Iwata N., Yamanaka S.,
RA   Inoue H.;
RT   "Modeling Alzheimer's disease with iPSCs reveals stress phenotypes
RT   associated with intracellular Abeta and differential drug
RT   responsiveness.";
RL   Cell Stem Cell 12:487-496(2013).
//