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Cellosaurus IRMBi001-A (CVCL_VD86)

[Text version]
Cell line name IRMBi001-A
Synonyms AD-PS1 hiPSC
Accession CVCL_VD86
Resource Identification Initiative To cite this cell line use: IRMBi001-A (RRID:CVCL_VD86)
Comments From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Gly217Asp (c.650G>A); ClinVar=VCV000098057; Zygosity=Heterozygous (PubMed=30677723).
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)
Sex of cell Male
Age at sampling 54Y
Category Induced pluripotent stem cell
Publications

PubMed=30677723; DOI=10.1016/j.scr.2018.101381
Auboyer L., Monzo C., Wallon D., Rovelet-Lecrux A., Gabelle A., Gazagne I., Cacheux V., Lehmann S., Crozet C.
Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene.
Stem Cell Res. 34:101381-101381(2019)

Cross-references
Cell line databases/resources hPSCreg; IRMBi001-A
Biological sample resources BioSamples; SAMEA104618388
Encyclopedic resources Wikidata; Q54898250
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number10