ID   BIONi010-C-30
AC   CVCL_VR97
SY   BIONi010-C-E280A +/-; BIONi010-C + Psen1 E280A +/-
DR   hPSCreg; BIONi010-C-30
DR   Wikidata; Q93426791
RX   PubMed=30769329;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Glu280Ala (c.839A>C); ClinVar=VCV000018131; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30769329).
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)
HI   CVCL_1E68 ! BIONi010-C
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 12
//
RX   PubMed=30769329; DOI=10.1016/j.scr.2019.101403;
RA   Frederiksen, Henriette Reventlow Secher
RA   Holst, Bjorn
RA   Mau-Holzmann, Ulrike A.
RA   Freude, Kristine Karla
RA   Schmid, Benjamin
RT   "Generation of two isogenic iPSC lines with either a heterozygous or a
RT   homozygous E280A mutation in the PSEN1 gene.";
RL   Stem Cell Res. 35:101403-101403(2019).
//