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Cellosaurus ND41003 (CVCL_EZ64)

[Text version]
Cell line name ND41003
Accession CVCL_EZ64
Resource Identification Initiative To cite this cell line use: ND41003 (RRID:CVCL_EZ64)
Comments Population: Caucasian; Italian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous (NHCDR=ND41003).
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)
Hierarchy Children:
CVCL_YP97 (NH50217)CVCL_YP98 (NH50218)CVCL_YP99 (NH50219)
Sex of cell Female
Age at sampling 62Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND41003 - Discontinued
NHCDR; ND41003
Encyclopedic resources Wikidata; Q54930185
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12