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Cellosaurus INEUi001-A (CVCL_C9LF)

[Text version]
Cell line name INEUi001-A
Synonyms FBDC9 1.3
Accession CVCL_C9LF
Resource Identification Initiative To cite this cell line use: INEUi001-A (RRID:CVCL_C9LF)
Comments From: Instituto de Neurociencias; Buenos Aires; Argentina.
Population: Latino or Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Unexplicit; Deletion in GGGGCC repeat; Zygosity=Heterozygous (PubMed=36963214).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 75Y
Category Induced pluripotent stem cell
Publications

PubMed=36963214; DOI=10.1016/j.scr.2023.103076
Nievas M., Romorini L., Isaja L., Clas G.S., Rodriguez-Varela S., Mucci S., Itzcovich T., de Ambrosi B., Scassa M.E., Sevlever G.E., Surace E.I., Marazita M.C.
Generation of a human induced pluripotent stem cell line (INEUi001-A) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a C9ORF72 G4C2 genotype of <2 (GGGGCCG) and 10 repeats.
Stem Cell Res. 69:103076-103076(2023)

Cross-references
Cell line databases/resources hPSCreg; INEUi001-A
Biological sample resources BioSamples; SAMEA112354813
Encyclopedic resources Wikidata; Q123032701
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3