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Cellosaurus CSSi012-A (CVCL_A8KQ)

[Text version]
Cell line name CSSi012-A
Synonyms CSSi012-A (7672); 7672; CSS012-A; GAFU cl.A
Accession CVCL_A8KQ
Resource Identification Initiative To cite this cell line use: CSSi012-A (RRID:CVCL_A8KQ)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian; Italian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Gly376Asp (c.1127G>A); Zygosity=Heterozygous (PubMed=34087986).
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 Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=34087986; DOI=10.1016/j.scr.2021.102356
D'Anzi A., Altieri F., Perciballi E., Ferrari D., Torres B., Bernardini L., Lattante S., Sabatelli M., Vescovi A.L., Rosati J.D.
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein.
Stem Cell Res. 53:102356-102356(2021)

Cross-references
Cell line databases/resources hPSCreg; CSSi012-A
Biological sample resources BioSamples; SAMEA8427021
Encyclopedic resources Wikidata; Q108820087
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6