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Cellosaurus BIONi010-C-30 (CVCL_VR97)

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Cell line name BIONi010-C-30
Synonyms BIONi010-C-E280A +/-; BIONi010-C + Psen1 E280A +/-
Accession CVCL_VR97
Resource Identification Initiative To cite this cell line use: BIONi010-C-30 (RRID:CVCL_VR97)
Comments From: Bioneer A/S; Horsholm; Denmark.
Population: African.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Glu280Ala (c.839A>C); ClinVar=VCV000018131; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30769329).
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_1E68 (BIONi010-C)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=30769329; DOI=10.1016/j.scr.2019.101403
Henriette Reventlow Secher Frederiksen, Bjorn Holst, Ulrike A. Mau-Holzmann, Kristine Karla Freude, Benjamin Schmid;
Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.
Stem Cell Res. 35:101403-101403(2019)

Cross-references
Cell line databases/resources hPSCreg; BIONi010-C-30
Encyclopedic resources Wikidata; Q93426791
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12