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Cellosaurus PSEN2-141 N-hiPSC (CVCL_C0CW)

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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
Hany E. Marei, Asmaa Althani, Nahla Afifi, Anwarul Hasan, Thomas Caceci, Giacomo Pozzoli, Carlo Cenciarelli;
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