ID   FLENIi001-A
AC   CVCL_A7IY
SY   FFAD1.2 c4
DR   hPSCreg; FLENIi001-A
DR   Wikidata; Q107115021
RX   PubMed=33839546;
CC   From: Fundacion para la Lucha contra las Enfermedades Neurologicas de la Infancia; Buenos Aires; Argentina.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Thr119Ile (c.356C>T); ClinVar=VCV000625849; Zygosity=Heterozygous (PubMed=33839546).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33839546; DOI=10.1016/j.scr.2021.102325;
RA   Isaja L., Rodriguez-Varela M.S., Marazita M., Mucci S., Itzcovich T.,
RA   Chrem-Mendez P., Niikado M., Ferriol-Laffouillere S.L., Allegri R.,
RA   Martinetto H., Sevlever G.E., Scassa M.E., Surace E.I., Romorini L.;
RT   "Generation of a human induced pluripotent stem cell line from a
RT   familial Alzheimer's disease PSEN1 T119I patient.";
RL   Stem Cell Res. 53:102325-102325(2021).
//