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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
Kondo T., Asai M., Tsukita K., Kutoku Y., Ohsawa Y., Sunada Y., Imamura K., Egawa N., Yahata N., Okita K., Takahashi K., Asaka I., Aoi T., Watanabe A., Watanabe K., Kadoya C., Nakano R., Watanabe D., Maruyama K., Hori O., Hibino S., Choshi T., Nakahata T., Hioki H., Kaneko T., Naitoh M., Yoshikawa K., Yamawaki S., Suzuki S., Hata R., Ueno S.-i., Seki T., Kobayashi K., Toda T., Murakami K., Irie K., Klein W.L., Mori H., Asada T., Takahashi R., Iwata N., Yamanaka S., Inoue H.
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