Cellosaurus cell line IRMBi002-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; IRMBi002-A
Biological sample resources	BioSamples; SAMEA4984140
Encyclopedic resources	Wikidata; Q54898251
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	11