Cellosaurus logo
expasy logo

Cellosaurus GM25308 (CVCL_HK63)

[Text][XML][JSON]
Cell line name GM25308
Accession CVCL_HK63
Resource Identification Initiative To cite this cell line use: GM25308 (RRID:CVCL_HK63)
Comments Derived from site: In situ; Oral cavity, tonsil; UBERON=UBERON_0002372.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Gln7398Ter (c.22192C>T) (p.Gln5662Ter, c.16984C>T); ClinVar=VCV000556628; Zygosity=Heterozygous (Coriell=GM25308).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8414Ter (c.25241T>G) (p.Leu6523Ter, c.19568T>G); ClinVar=VCV000633334; Zygosity=Heterozygous (Coriell=GM25308).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25308
Encyclopedic resources Wikidata; Q54853869
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12