ID   F11430
AC   CVCL_A8YT
DR   Wikidata; Q108820208
RX   PubMed=30045758;
RX   PubMed=39079290;
CC   From: University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.His163Arg (c.488A>G); ClinVar=VCV000018124; 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).
//
RX   PubMed=39079290; DOI=10.1016/j.scr.2024.103495; PMCID=PMC11608089;
RA   Hernandez D., Morgan Schlicht S., Clarke J.E., Daniszewski M.S.,
RA   Karch C.M., Goate A.M., Pebay A.;
RG   Dominantly Inherited Alzheimer Network (DIAN);
RT   "Generation of a gene-corrected human isogenic iPSC line from an
RT   Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation.";
RL   Stem Cell Res. 79:103495-103495(2024).
//