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

Cellosaurus NYSCF-AD-1021-AG08446-Skin-RV-IPSC1 (CVCL_AD16)

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 Andrew A. Sproul, Samson Jacob, Deborah Pre, Soong Ho Kim, Michael W. Nestor, Miriam Navarro-Sobrino, Ismael Santa-Maria, Matthew Zimmer, Soline Aubry, John W. Steele, David J. Kahler ...Show all 16 authors... , Alex Dranovsky, Ottavio Arancio, John Fonda Crary, Sam E. Gandy, Scott A. Noggle; Show fewer authors Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors. PLoS ONE 9:e84547.1-e84547.11(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