Cellosaurus cell line IMEDEAi006-A (CVCL

Cellosaurus IMEDEAi006-A (CVCL_WK45)

Cross-references
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 site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 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 Sara Vallejo-Diez, Aarne Fleischer, Jose Maria Martin-Fernandez, Almudena Sanchez-Gilabert, Monica Castresana, David Aguillon, Andres Villegas, Claudio Alberto Mastronardi, Lady Giovanna Espinosa, Mauricio Arcos-Burgos, Angel del Pozo ...Show all 16 authors... , Enara Herran, Eusebio Gainza, Mario Arturo Isaza-Ruget, Francisco Lopera, Daniel Bachiller; Show fewer authors 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)
Cell line databases/resources	hPSCreg; IMEDEAi006-A
Encyclopedic resources	Wikidata; Q94316126
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	10