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Cellosaurus PRE3763 (CVCL_C9D0)

[Text version]
Cell line name PRE3763
Synonyms C9-Asymptomatic line 3763
Accession CVCL_C9D0
Resource Identification Initiative To cite this cell line use: PRE3763 (RRID:CVCL_C9D0)
Comments Donor information: At sampling donor was not affected with frontotemporal dementia and/or amyotrophic lateral sclerosis but at risk for disease.
Miscellaneous: Cell line information from personal communication of Shaw, Allan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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=Heterozygous (Direct_author_submission).
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 36Y
Category Finite cell line
Cross-references
Encyclopedic resources Wikidata; Q123033278
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4