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Cellosaurus FLENIi001-A (CVCL_A7IY)

[Text version]
Cell line name FLENIi001-A
Synonyms FFAD1.2 c4
Accession CVCL_A7IY
Resource Identification Initiative To cite this cell line use: FLENIi001-A (RRID:CVCL_A7IY)
Comments From: Fundacion para la Lucha contra las Enfermedades Neurologicas de la Infancia; Buenos Aires; Argentina.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Thr119Ile (c.356C>T); ClinVar=VCV000625849; Zygosity=Heterozygous (PubMed=33839546).
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 Male
Age at sampling 72Y
Category Induced pluripotent stem cell
Publications

PubMed=33839546; DOI=10.1016/j.scr.2021.102325
Isaja L., Rodriguez-Varela M.S., Marazita M., Mucci S., Itzcovich T., Chrem-Mendez P., Niikado M., Ferriol-Laffouillere S.L., Allegri R., Martinetto H., Sevlever G.E., Scassa M.E., Surace E.I., Romorini L.
Generation of a human induced pluripotent stem cell line from a familial Alzheimer's disease PSEN1 T119I patient.
Stem Cell Res. 53:102325-102325(2021)

Cross-references
Cell line databases/resources hPSCreg; FLENIi001-A
Encyclopedic resources Wikidata; Q107115021
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5