Cellosaurus cell line NCBL4.c27 (CVCL

Cross-references
Cell line name	NCBL4.c27
Accession	CVCL_C0P6
Resource Identification Initiative	To cite this cell line use: NCBL4.c27 (RRID:CVCL_C0P6)
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	Neuronal ceroid lipofuscinosis type 11 (NCIt: C188214) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C0P7 ! NCBL4.c33
Sex of cell	Female
Age at sampling	34Y
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; Q112930159
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	7