ID   F16574
AC   CVCL_A8YY
DR   Wikidata; Q108820213
RX   PubMed=30045758;
RX   PubMed=34088002;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=30045758).
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)
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 6
//
RX   PubMed=30045758; DOI=10.1186/s13195-018-0400-0;
RA   Karch C.M., Hernandez D., Wang J.-C., Marsh J., Hewitt A.W., Hsu S.,
RA   Norton J., Levitch D., Donahue T., Sigurdson W., Ghetti B., Farlow M.,
RA   Chhatwal J., Berman S., Cruchaga C., Morris J.C., Bateman R.J.,
RA   Pebay A., Goate A.M.;
RT   "Human fibroblast and stem cell resource from the Dominantly Inherited
RT   Alzheimer Network.";
RL   Alzheimers Res. Ther. 10:69.1-69.11(2018).
//
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).
//