ID   APP2E22
AC   CVCL_RN69
SY   APP2E 22
DR   Wikidata; Q54750322
RX   PubMed=23434393;
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple; p.Val717Leu (c.2149G>C); ClinVar=VCV000018105; Zygosity=Heterozygous (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; Familial Alzheimer's disease, type 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RN70 ! APP2E26
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//