Cellosaurus cell line NCBL2.c46 (CVCL

Cross-references
Cell line name	NCBL2.c46
Accession	CVCL_C0P3
Resource Identification Initiative	To cite this cell line use: NCBL2.c46 (RRID:CVCL_C0P3)
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).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C0P2 ! NCBL2.c11
Sex of cell	Male
Age at sampling	29Y
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; Q112930156
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6