Cellosaurus cell line NYSCF-AD-1021-AG08446-Skin-RV-IPSC1 (CVCL

Cross-references
Cell line name	NYSCF-AD-1021-AG08446-Skin-RV-IPSC1
Accession	CVCL_AD16
Resource Identification Initiative	To cite this cell line use: NYSCF-AD-1021-AG08446-Skin-RV-IPSC1 (RRID:CVCL_AD16)
Comments	From: New York Stem Cell Foundation; New York; USA. Population: Caucasian; Italian. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Met146Leu (c.436A>C); ClinVar=VCV000018123; Zygosity=Unspecified (PubMed=24416243).
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_4K58 (AG08446)
Sex of cell	Male
Age at sampling	38Y1M
Category	Induced pluripotent stem cell
Publications	PubMed=24416243; DOI=10.1371/journal.pone.0084547; PMCID=PMC3885572 Sproul A.A., Jacob S., Pre D., Kim S.H., Nestor M.W., Navarro-Sobrino M., Santa-Maria I., Zimmer M., Aubry S., Steele J.W., Kahler D.J., Dranovsky A., Arancio O., Crary J.F., Gandy S.E., Noggle S.A. Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors. PLoS ONE 9:E84547-E84547(2014)
Cell line databases/resources	SKIP; SKIP004870
Encyclopedic resources	Wikidata; Q54931388
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	14