Cellosaurus cell line ND41872 (CVCL

Cellosaurus ND41872 (CVCL_RY04)

Cross-references
Cell line name	ND41872
Synonyms	ND41872*C; 2L26; PGRN S116X iPSC #26
Accession	CVCL_RY04
Secondary accession	CVCL_Y843
Resource Identification Initiative	To cite this cell line use: ND41872 (RRID:CVCL_RY04)
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_RY03 ! ND41871
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 David 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) PubMed=27594586; DOI=10.1016/j.stemcr.2016.08.006; PMCID=PMC5032669 Mohammed Helal Uddin Biswas, Sandra Almeida, Rodrigo Lopez-Gonzalez, Wen-Jie Mao, Zhi-Jun Zhang, Anna M. Karydas, Michael David Geschwind, Jacek Biernat, Eva-Maria Mandelkow, Kensuke Futai, Bruce Lars Miller, Fen-Biao Gao; MMP-9 and MMP-2 contribute to neuronal cell death in iPSC models of frontotemporal dementia with MAPT mutations. Stem Cell Reports 7:316-324(2016)
Cell line collections (Providers)	Coriell; ND41872 - Discontinued NHCDR; ND41872
Cell line databases/resources	SKIP; SKIP001567 SKIP; SKIP004728
Encyclopedic resources	Wikidata; Q54584601
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11