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Cellosaurus BIONi010-C-29 (CVCL_VR96)

[Text version]
Cell line name BIONi010-C-29
Synonyms BIONi010-C-E280A +/+; BIONi010-C + Psen1 E280A +/+
Accession CVCL_VR96
Resource Identification Initiative To cite this cell line use: BIONi010-C-29 (RRID:CVCL_VR96)
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; 9508; PSEN1; Simple_edited; p.Glu280Ala (c.839A>C); ClinVar=VCV000018131; Zygosity=Homozygous; 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
Frederiksen H.R.S., Holst B., Mau-Holzmann U.A., Freude K.K., Schmid B.
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-29
Encyclopedic resources Wikidata; Q93426783
Entry history
Entry creation25-Feb-2019
Last entry update05-Oct-2023
Version number11