Cellosaurus cell line ND41871 (CVCL

Cellosaurus ND41871 (CVCL_RY03)

Cross-references
Cell line name	ND41871
Synonyms	ND41871*F; 2L14; PGRN S116X iPSC #14
Accession	CVCL_RY03
Secondary accession	CVCL_Y842
Resource Identification Initiative	To cite this cell line use: ND41871 (RRID:CVCL_RY03)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4601; GRN; Simple; p.Ser116Ter (c.347C>A); ClinVar=VCV002633502; Zygosity=Unspecified (PubMed=23063362).
Disease	Frontotemporal dementia (NCIt: C84719) Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_RY02 ! ND41870 CVCL_RY04 ! ND41872
Sex of cell	Male
Age at sampling	64Y
Category	Induced pluripotent stem cell
Publications	PubMed=23063362; DOI=10.1016/j.celrep.2012.09.007; PMCID=PMC3532907 Sandra Almeida, Zhi-Jun Zhang, Giovanni Coppola, Wen-Jie Mao, Kensuke Futai, Anna M. Karydas, Michael D. Geschwind, M. Carmela Tartaglia, Fu-Ying Gao, Davide Gianni, Miguel Sena-Esteves ...Show all 15 authors... , Daniel H. Geschwind, Bruce Lars Miller, Robert V. Farese Jr., Fen-Biao Gao; Show fewer authors Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. Cell Rep. 2:789-798(2012)
Cell line collections (Providers)	Coriell; ND41871 - Discontinued NHCDR; ND41871
Cell line databases/resources	SKIP; SKIP001566
Encyclopedic resources	Wikidata; Q54584594
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10