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Cellosaurus 7889SA PSEN1(WT/M146V) (CVCL_E7GA)

[Text version]
Cell line name 7889SA PSEN1(WT/M146V)
Accession CVCL_E7GA
Resource Identification Initiative To cite this cell line use: 7889SA PSEN1(WT/M146V) (RRID:CVCL_E7GA)
Comments Population: Caucasian; Italian.
Donor information: At sampling donor was not affected with Alzheimer disease but has a 25% risk (from parent cell line).
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Met146Val (c.436A>G); ClinVar=VCV000018129; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27120160).
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)
Hierarchy Parent: CVCL_AD15 (NYSCF-AD-1019-AG07889-Skin-RV-IPSC1)
Sex of cell Male
Age at sampling 17Y8M
Category Induced pluripotent stem cell
Publications

PubMed=27120160; DOI=10.1038/nature17664
Paquet D., Kwart D.G., Chen A., Sproul A.A., Jacob S., Teo S., Olsen K.M., Gregg A., Noggle S.A., Tessier-Lavigne M.
Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9.
Nature 533:125-129(2016)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1