Cellosaurus cell line FLENIi001-A (CVCL

Cellosaurus FLENIi001-A (CVCL_A7IY)

Cross-references
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; 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 Luciana Isaja, Maria Soledad Rodriguez-Varela, Mariela C. Marazita, Sofia Mucci, Tatiana Itzcovich, Patricio Chrem-Mendez, Matias Niikado, Sofia Lujan Ferriol-Laffouillere, Ricardo Allegri, Horacio Martinetto, Gustavo Emilio Sevlever ...Show all 14 authors... , Maria Elida Scassa, Ezequiel Ignacio Surace, Leonardo Romorini; Show fewer authors 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)
Cell line databases/resources	hPSCreg; FLENIi001-A
Encyclopedic resources	Wikidata; Q107115021
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6