Cellosaurus cell line IRMBi001-A (CVCL

Cross-references
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; 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 Laura Auboyer, Carles Monzo, David Wallon, Anne Rovelet-Lecrux, Audrey Gabelle, Isabelle Gazagne, Valerie Cacheux, Sylvain Lehmann, Carole Crozet; 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)
Cell line databases/resources	hPSCreg; IRMBi001-A
Biological sample resources	BioSamples; SAMEA104618388
Encyclopedic resources	Wikidata; Q54898250
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	11