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Cellosaurus IMEDEAi006-A (CVCL_WK45)

[Text version]

Cell line name IMEDEAi006-A
Synonyms iPS 322AD CL7
Accession CVCL_WK45
Resource Identification Initiative To cite this cell line use: IMEDEAi006-A (RRID:CVCL_WK45)
Comments From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
Derived from sampling site: Oral cavity; oral mucosa. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Glu280Ala (c.839A>C); ClinVar=VCV000018131; Zygosity=Heterozygous (PubMed=31026686).
Disease Alzheimer's disease 3 (NCIt: C123412)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=31026686; DOI=10.1016/j.scr.2019.101440
Vallejo-Diez S., Fleischer A., Martin-Fernandez J.M., Sanchez-Gilabert A., Castresana M., Aguillon D., Villegas A., Mastronardi C.A., Espinosa L.G., Arcos-Burgos M., Del Pozo A., Herran E., Gainza E., Isaza-Ruget M., Lopera F., Bachiller D.
Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's disease (fAD) patient carrying the E280A mutation in the PSEN1 gene.
Stem Cell Res. 37:101440-101440(2019)

Cross-references
Cell line databases/resources hPSCreg; IMEDEAi006-A
Encyclopedic resources Wikidata; Q94316126
Entry history
Entry creation24-May-2019
Last entry update17-Mar-2022
Version number7