Cellosaurus cell line NCBL4.c33 (CVCL

Cross-references
Cell line name	NCBL4.c33
Accession	CVCL_C0P7
Resource Identification Initiative	To cite this cell line use: NCBL4.c33 (RRID:CVCL_C0P7)
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_C0P6 ! NCBL4.c27
Sex of cell	Female
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=36009452; DOI=10.3390/biomedicines10081905; PMCID=PMC9405606 Oliveira A.R., Martins S., Cammarata G., Martins M., Cardoso A.M., Almeida M.R., do Carmo Macario M., Santana I., Peca J., Cardoso A.L. 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; Q112930160
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	7