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Cellosaurus UCSCi002-A (CVCL_C0JS)

[Text version]
Cell line name UCSCi002-A
Synonyms LIF-1989
Accession CVCL_C0JS
Resource Identification Initiative To cite this cell line use: UCSCi002-A (RRID:CVCL_C0JS)
Comments From: Universita Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli; Rome; Italy.
Population: Caucasian; Italian.
Omics: Array-based CGH.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11571; TARDBP; Simple; p.Ser332Asn (c.995G>A); ClinVar=VCV001448395; Zygosity=Heterozygous (PubMed=35667216).
Disease Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 65Y
Category Induced pluripotent stem cell

PubMed=35667216; DOI=10.1016/j.scr.2022.102825
Martello F., Lattante S., Doronzio P.N., Conte A., Bisogni G., Orteschi D., Luigetti M., Marrucci M.A., Zollino M., Sabatelli M., Marangi G.
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
Stem Cell Res. 62:102825-102825(2022)

Cell line databases/resources hPSCreg; UCSCi002-A
Biological sample resources BioSamples; SAMEA10774218
Encyclopedic resources Wikidata; Q112930507
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5