Cellosaurus cell line FTD3#6-PGRN (CVCL

Cross-references
Cell line name	FTD3#6-PGRN
Accession	CVCL_ZI78
Resource Identification Initiative	To cite this cell line use: FTD3#6-PGRN (RRID:CVCL_ZI78)
Comments	Characteristics: Using ZFN GRN was introduced in the AAVS1 safe harbor locus. Genetic integration: Method=ZFN; Gene=HGNC; HGNC:4601; GRN. Omics: Transcriptome analysis by RNAseq. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4601; GRN; Simple; c.-8+5G>C (IVS1+5G>C) (g-3826G>C); ClinVar=VCV000098119; Zygosity=Unspecified (PubMed=25556567).
Disease	Frontotemporal dementia (NCIt: C84719) Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_ZI77 (FTD3#6-iPSC)
Category	Induced pluripotent stem cell
Publications	PubMed=25556567; DOI=10.1016/j.stemcr.2014.12.001; PMCID=PMC4297877 Raitano S., Ordovas L., De Muynck L., Guo W.-T., Espuny-Camacho I., Geraerts M., Khurana S., Vanuytsel K., Toth B.I., Voets T., Vandenberghe R., Cathomen T., Van Den Bosch L., Vanderhaeghen P., Van Damme P., Verfaillie C.M. Restoration of progranulin expression rescues cortical neuron generation in an induced pluripotent stem cell model of frontotemporal dementia. Stem Cell Reports 4:16-24(2015)
Encyclopedic resources	Wikidata; Q98126273
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	9