ID   UOMELBi004-A
AC   CVCL_E5E4
SY   F114030c3AA3
DR   hPSCreg; UOMELBi004-A
RX   PubMed=39079290;
CC   From: University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple_corrected; p.His163Arg (c.488A>G); ClinVar=VCV000018124; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39079290).
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)
HI   CVCL_A8YT ! F11430
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
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).
//