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 Tong Li, Carlota Pires, Troels T. Nielsen, Gunhild Waldemar, Lena Elisabeth Hjermind, Jorgen E. Nielsen, Andras Dinnyes, Bjorn Holst, Poul Hyttel, Kristine Karla Freude; 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