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Cellosaurus APP1E211 (CVCL_RN67)

[Text version]
Cell line name APP1E211
Synonyms APP1E 211
Accession CVCL_RN67
Resource Identification Initiative To cite this cell line use: APP1E211 (RRID:CVCL_RN67)
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_RN66 ! APP1E111
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
Encyclopedic resources Wikidata; Q54750317
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9