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Cellosaurus C9-3B (CVCL_ZJ42)

[Text version]
Cell line name C9-3B
Accession CVCL_ZJ42
Resource Identification Initiative To cite this cell line use: C9-3B (RRID:CVCL_ZJ42)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=33837088).
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 Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=33837088; DOI=10.1126/sciadv.abg3013; PMCID=PMC8034861
Fumagalli L., Young F.L., Boeynaems S., De Decker M., Mehta A.R., Swijsen A., Fazal R., Guo W.-T., Moisse M., Beckers J., Dedeene L., Selvaraj B.T., Vandoorne T., Madan V., van Blitterswijk M., Raitcheva D., McCampbell A., Poesen K., Gitler A.D., Koch P., Vanden Berghe P., Thal D.R., Verfaillie C.M., Chandran S., Van Den Bosch L., Bullock S.L., Van Damme P.
C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility.
Sci. Adv. 7:eabg3013.1-eabg3013.21(2021)

Cross-references
Encyclopedic resources Wikidata; Q98125605
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8