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Cellosaurus PSEN2-141 N-hiPSC (CVCL_C0CW)

[Text version]
Cell line name PSEN2-141 N-hiPSC
Accession CVCL_C0CW
Resource Identification Initiative To cite this cell line use: PSEN2-141 N-hiPSC (RRID:CVCL_C0CW)
Comments From: IxCells Biotechnologies, LLC; San Diego; USA.
Population: Caucasian; German.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9509; PSEN2; Simple_corrected; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34634760).
Disease Alzheimer's disease 4 (NCIt: C123413)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0CV (PSEN2-N141I-hiPSC)
Sex of cell Female
Age at sampling 81Y
Category Induced pluripotent stem cell
Publications

PubMed=34634760; DOI=10.1016/j.scr.2021.102552
Marei H.E., Althani A., Afifi N., Hasan A., Caceci T., Pozzoli G., Cenciarelli C.
Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2.
Stem Cell Res. 56:102552-102552(2021)

Cross-references
Encyclopedic resources Wikidata; Q114312686
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5