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Cellosaurus FINCBi004-A (CVCL_C9D7)

[Text version]
Cell line name FINCBi004-A
Synonyms 140395
Accession CVCL_C9D7
Resource Identification Initiative To cite this cell line use: FINCBi004-A (RRID:CVCL_C9D7)
Comments From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:25443; C19orf12; Simple; p.Gly47Ser (c.139G>A); Zygosity=Homozygous (PubMed=37689041).
Disease Neurodegeneration with brain iron accumulation 4 (NCIt: C175707)
Mitochondrial membrane protein-associated neurodegeneration (ORDO: Orphanet_289560)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=37689041; DOI=10.1016/j.scr.2023.103197
Zanuttigh E., Rusha E., Peron C., Brunetti D., Zorzi G., Pertek A., Nteli P., Winkelmann J., Tiranti V., Iuso A.
Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12.
Stem Cell Res. 72:103197-103197(2023)

Cross-references
Cell line databases/resources hPSCreg; FINCBi004-A
Biological sample resources BioSamples; SAMEA113537083
Encyclopedic resources Wikidata; Q123031278
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3