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Cellosaurus UOWi003-A (CVCL_VF29)

[Text version]

Cell line name UOWi003-A
Synonyms 6848.2; iPSC 6848.2; FAD1
Accession CVCL_VF29
Resource Identification Initiative To cite this cell line use: UOWi003-A (RRID:CVCL_VF29)
Comments From: University of Wollongong; Wollongong; Australia.
Population: Caucasian.
Derived from sampling site: Arm; skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Heterozygous (PubMed=30138848).
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_D534 (AG06848)
Sex of cell Female
Age at sampling 55Y6M
Category Induced pluripotent stem cell
Publications

PubMed=30138848; DOI=10.1016/j.scr.2018.08.006
Munoz S.S., Balez R., Castro Cabral-da-Silva M.E., Berg T., Engel M., Bax M., Do-Ha D., Stevens C.H., Greenough M., Bush A., Ooi L.
Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1.
Stem Cell Res. 31:227-230(2018)

PubMed=32887382; DOI=10.3390/cells9092018
Munoz S.S., Engel M., Balez R., Do-Ha D., Cabral-da-Silva M.C., Hernandez D., Berg T., Fifita J.A., Grima N., Yang S., Blair I.P., Nicholson G., Cook A.L., Hewitt A.W., Pebay A., Ooi L.
A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer's disease and frontotemporal dementia disease modeling.
Cells 9:2018.1-2018.17(2020)

Cross-references
Cell line databases/resources hPSCreg; UOWi003-A
Encyclopedic resources Wikidata; Q54991427
Entry history
Entry creation14-May-2018
Last entry update17-Mar-2022
Version number8