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Cellosaurus APP1E111 (CVCL_RN66)

[Text version]
Cell line name APP1E111
Synonyms APP1E 111
Accession CVCL_RN66
Resource Identification Initiative To cite this cell line use: APP1E111 (RRID:CVCL_RN66)
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 Familial Alzheimer's disease, type 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_RN67 ! APP1E211
CVCL_RN68 ! APP1E311
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
Cell line databases/resources SKIP; SKIP001105
Encyclopedic resources Wikidata; Q54750316
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9