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Cellosaurus M146I-hiPSC (CVCL_DQ95)

[Text version]
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; 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)

Cross-references
Cell line databases/resources SKIP; SKIP001286
Encyclopedic resources Wikidata; Q54903473
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number11