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Cellosaurus APP1E311 (CVCL_RN68)

[Text version]
Cell line name APP1E311
Synonyms APP1E 311
Accession CVCL_RN68
Resource Identification Initiative To cite this cell line use: APP1E311 (RRID:CVCL_RN68)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:620; APP; Simple; p.Glu693del (c.2079_2081delAGA); Zygosity=Homozygous (PubMed=23434393).
Disease Alzheimer's disease 1 (NCIt: C146894)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RN66 ! APP1E111
CVCL_RN67 ! APP1E211
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=23434393; DOI=10.1016/j.stem.2013.01.009
Takayuki Kondo, Masashi Asai, Kayoko Tsukita, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada, Keiko Imamura, Naohiro Egawa, Naoki Yahata, Keisuke Okita, Kazutoshi Takahashi ...Show all 43 authors... , Isao Asaka, Takashi Aoi, Akira Watanabe, Kaori Watanabe, Chie Kadoya, Rie Nakano, Dai Watanabe, Kei Maruyama, Osamu Hori, Satoshi Hibino, Tominari Choshi, Tatsutoshi Nakahata, Hiroyuki Hioki, Takeshi Kaneko, Motoko Naitoh, Katsuhiro Yoshikawa, Satoko Yamawaki, Shigehiko Suzuki, Ryuji Hata, Shu-ichi Ueno, Tsuneyoshi Seki, Kazuhiro Kobayashi, Tatsushi Toda, Kazuma Murakami, Kazuhiro Irie, William L. Klein, Hiroshi Mori, Takashi Asada, Ryosuke Takahashi, Nobuhisa Iwata, Shinya Yamanaka, Haruhisa Inoue; Show fewer authors
Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Abeta and differential drug responsiveness.
Cell Stem Cell 12:487-496(2013)

Cross-references
Encyclopedic resources Wikidata; Q54750320
Entry history
Entry creation05-Mar-2018
Last entry update10-Apr-2025
Version number10