Cellosaurus logo
expasy logo

Cellosaurus NH50216 (CVCL_YP96)

[Text version]
Cell line name NH50216
Accession CVCL_YP96
Resource Identification Initiative To cite this cell line use: NH50216 (RRID:CVCL_YP96)
Comments Population: Caucasian.
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.Gly298Ser (c.892G>A); ClinVar=VCV000005232; Zygosity=Heterozygous (from parent cell line).
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 Parent: CVCL_EY82 (ND32947)
Sex of cell Male
Age at sampling 64Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50216
Encyclopedic resources Wikidata; Q98127665
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9