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Cellosaurus IRMBi002-A (CVCL_VD87)

[Text version]
Cell line name IRMBi002-A
Synonyms AD-APP hiPSC
Accession CVCL_VD87
Resource Identification Initiative To cite this cell line use: IRMBi002-A (RRID:CVCL_VD87)
Comments From: Institute for Regenerative Medecine and Biotherapy; Montpellier; France.
Population: Caucasian.
Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations
  • Mutation; HGNC; 620; APP; Simple; p.Asp694Asn (c.2080G>A); ClinVar=VCV000018101; Zygosity=Heterozygous (PubMed=31004935).
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)
Sex of cell Female
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=31004935; DOI=10.1016/j.scr.2019.101438
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 (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene.
Stem Cell Res. 37:101438-101438(2019)

Cross-references
Cell line databases/resources hPSCreg; IRMBi002-A
Biological sample resources BioSamples; SAMEA4984140
Encyclopedic resources Wikidata; Q54898251
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number10