ID   UEFi002-A
AC   CVCL_VN60
SY   LL008 1.4
DR   hPSCreg; UEFi002-A
DR   Wikidata; Q98133867
RX   PubMed=30099334;
CC   From: University of Eastern Finland; Kuopio; Finland.
CC   Population: Caucasian; Scandinavian.
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple; p.Lys670_Met671delinsAsnLeu (c.2010_2011inv) (c.2010_2011delGAinsTC); ClinVar=VCV000018093; Zygosity=Heterozygous (PubMed=30099334).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C146894; Alzheimer's disease 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 10-04-25; Version: 10
//
RX   PubMed=30099334; DOI=10.1016/j.scr.2018.07.024;
RA   Oksanen, Minna
RA   Hyotylainen, Ida
RA   Voutilainen, Jenni
RA   Puttonen, Katja A.
RA   Hamalainen, Riikka H.
RA   Graff, Caroline
RA   Lehtonen, Sarka
RA   Koistinaho, Jari
RT   "Generation of a human induced pluripotent stem cell line (LL008 1.4)
RT   from a familial Alzheimer's disease patient carrying a double
RT   KM670/671NL (Swedish) mutation in APP gene.";
RL   Stem Cell Res. 31:181-185(2018).
//