ID   BIONi010-C-38
AC   CVCL_UR27
SY   BIONi010-C Swedish (KM670/671NL); APP KM670/671NL
DR   hPSCreg; BIONi010-C-38
DR   Wikidata; Q93426795
RX   PubMed=30634129;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple_edited; p.Lys670_Met671delinsAsnLeu (c.2010_2011inv) (c.2010_2011delGAinsTC); ClinVar=VCV000018093; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30634129).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C146894; Familial Alzheimer's disease, type 1
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: 29-06-23; Version: 10
//
RX   PubMed=30634129; DOI=10.1016/j.scr.2018.101368;
RA   Frederiksen H.R.S., Holst B., Ramakrishna S., Muddashetty R.S., Schmid B.,
RA   Freude K.K.;
RT   "Generation of two iPSC lines with either a heterozygous V717I or a
RT   heterozygous KM670/671NL mutation in the APP gene.";
RL   Stem Cell Res. 34:101368-101368(2019).
//