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Cellosaurus BIONi010-C-38 (CVCL_UR27)

[Text version]
Cell line name BIONi010-C-38
Synonyms BIONi010-C Swedish (KM670/671NL); APP KM670/671NL
Accession CVCL_UR27
Resource Identification Initiative To cite this cell line use: BIONi010-C-38 (RRID:CVCL_UR27)
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; 620; APP; Simple_edited; p.Lys670_Met671delinsAsnLeu (c.2010_2011inv) (c.2010_2011delGAinsTC); ClinVar=VCV000018093; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30634129).
Disease Familial Alzheimer's disease, type 1 (NCIt: C146894)
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=30634129; DOI=10.1016/j.scr.2018.101368
Frederiksen H.R.S., Holst B., Ramakrishna S., Muddashetty R.S., Schmid B., Freude K.K.
Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene.
Stem Cell Res. 34:101368-101368(2019)

Cross-references
Cell line databases/resources hPSCreg; BIONi010-C-38
Encyclopedic resources Wikidata; Q93426795
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number10