Cellosaurus cell line M146I-hiPSC (CVCL

Cross-references
Cell line name	M146I-hiPSC
Accession	CVCL_DQ95
Resource Identification Initiative	To cite this cell line use: M146I-hiPSC (RRID:CVCL_DQ95)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Met146Ile (c.438G>A); ClinVar=VCV000018137; Zygosity=Heterozygous (PubMed=27345998).
Disease	Alzheimer's disease 3 (NCIt: C123412) Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	46Y
Category	Induced pluripotent stem cell
Publications	PubMed=27345998; DOI=10.1016/j.scr.2016.01.001 Li T., Pires C., Nielsen T.T., Waldemar G., Hjermind L.E., Nielsen J.E., Dinnyes A., Holst B., Hyttel P., Freude K.K. Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1. Stem Cell Res. 16:334-337(2016)
Cell line databases/resources	SKIP; SKIP001286
Encyclopedic resources	Wikidata; Q54903473
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	12