ID   UOMELBi002-A
AC   CVCL_A8YZ
SY   F16574c3_A_A1_G8; F16574c3_AAG8
DR   BioSamples; SAMEA110403319
DR   hPSCreg; UOMELBi002-A
DR   Wikidata; Q108821465
RX   PubMed=34088002;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple_corrected; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34088002).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_A8YY ! F16574
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 30-01-24; Version: 7
//
RX   PubMed=34088002; DOI=10.1016/j.scr.2021.102373;
RA   Hernandez D., Schlicht S.M., Daniszewski M., Karch C.M.,
RA   Goate A.M., Pebay A.;
RT   "Generation of a gene-corrected human isogenic iPSC line from an
RT   Alzheimer's disease iPSC line carrying the London mutation in APP
RT   (V717I).";
RL   Stem Cell Res. 53:102373-102373(2021).
//