Cellosaurus cell line APP2E22 (CVCL

Cellosaurus APP2E22 (CVCL_RN69)

Cross-references
Cell line name	APP2E22
Synonyms	APP2E 22
Accession	CVCL_RN69
Resource Identification Initiative	To cite this cell line use: APP2E22 (RRID:CVCL_RN69)
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.Val717Leu (c.2149G>C); ClinVar=VCV000018105; Zygosity=Heterozygous (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_RN70 ! APP2E26
Sex of cell	Female
Age at sampling	57Y
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)
Encyclopedic resources	Wikidata; Q54750322
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11