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Cellosaurus CIBIOi001-A (CVCL_UF38)

[Text version]
Cell line name CIBIOi001-A
Synonyms Q66K#44DRM
Accession CVCL_UF38
Resource Identification Initiative To cite this cell line use: CIBIOi001-A (RRID:CVCL_UF38)
Comments From: CIBIO, University of Trento; Trento; Italy.
Population: Caucasian; Italian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:6912; MATR3; Simple; p.Gln66Lys (c.196C>A); Zygosity=Heterozygous (PubMed=30366341).
Disease Amyotrophic lateral sclerosis 21 (NCIt: C168755)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=30366341; DOI=10.1016/j.scr.2018.10.011
Pollini D., Loffredo R., Cardano M., Conti L., Lattante S., Notarangelo A., Sabatelli M., Provenzani A.
Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.
Stem Cell Res. 33:146-150(2018)

Cross-references
Cell line databases/resources hPSCreg; CIBIOi001-A
Encyclopedic resources Wikidata; Q93453497
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9