ID   F15553
AC   CVCL_A8YX
DR   Wikidata; Q108820212
RX   PubMed=30045758;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple; p.Val717Leu (c.2149G>C); ClinVar=VCV000018105; 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; Alzheimer's disease 1
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 10-04-25; Version: 7
//
RX   PubMed=30045758; DOI=10.1186/s13195-018-0400-0; PMCID=PMC6060509;
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.;
RG   Dominantly Inherited Alzheimer Network (DIAN);
RT   "Human fibroblast and stem cell resource from the Dominantly Inherited
RT   Alzheimer Network.";
RL   Alzheimers Res. Ther. 10:69.1-69.11(2018).
//