ID   F12434
AC   CVCL_A8YV
DR   Wikidata; Q108820210
RX   PubMed=30045758;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Gly217Arg (c.649G>C); ClinVar=VCV000018159; 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; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
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).
//