Cellosaurus cell line NCBL3.c6 (CVCL

Cross-references
Cell line name	NCBL3.c6
Accession	CVCL_C0P5
Resource Identification Initiative	To cite this cell line use: NCBL3.c6 (RRID:CVCL_C0P5)
Comments	From: Neuronal Circuits and Behavior Lab, Center for Neuroscience and Cell Biology; Coimbra; Portugal. Population: Caucasian; Portuguese. Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4601; GRN; Simple; p.Ser301Cysfs*61 (c.900_901dupGT); ClinVar=VCV003031059; Zygosity=Heterozygous (PubMed=36009452).
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_C0P4 ! NCBL3.c2
Sex of cell	Male
Age at sampling	63Y
Category	Induced pluripotent stem cell
Publications	PubMed=36009452; DOI=10.3390/biomedicines10081905; PMCID=PMC9405606 Ana Rafaela Oliveira, Solange Martins, Giuseppe Cammarata, Mariana Martins, Ana Maria Cardoso, Maria Rosario Almeida, Maria do Carmo Macario, Isabel Santana, Joao Peca, Ana Luisa Cardoso; Generation and characterization of novel iPSC lines from a Portuguese family bearing heterozygous and homozygous GRN mutations. Biomedicines 10:1905.1-1905.17(2022)
Encyclopedic resources	Wikidata; Q112930158
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6