ID   7889SA PSEN1(M146V/M146V)
AC   CVCL_E7G9
RX   PubMed=27120160;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Met146Val (c.436A>G); ClinVar=VCV000018129; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=27120160).
CC   Donor information: At sampling donor was not affected with Alzheimer disease but has a 25% risk (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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_AD15 ! NYSCF-AD-1019-AG07889-Skin-RV-IPSC1
SX   Male
AG   17Y8M
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=27120160; DOI=10.1038/nature17664;
RA   Paquet D., Kwart D.G., Chen A., Sproul A.A., Jacob S., Teo S.,
RA   Olsen K.M., Gregg A., Noggle S.A., Tessier-Lavigne M.;
RT   "Efficient introduction of specific homozygous and heterozygous
RT   mutations using CRISPR/Cas9.";
RL   Nature 533:125-129(2016).
//