Cellosaurus logo
expasy logo

Cellosaurus GM27104 (CVCL_WP05)

[Text version]
Cell line name GM27104
Accession CVCL_WP05
Resource Identification Initiative To cite this cell line use: GM27104 (RRID:CVCL_WP05)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Met1Val (c.1A>G); ClinVar=VCV000004491; Zygosity=Heterozygous (Coriell=GM27104).
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Gly315Ser (c.943G>A); ClinVar=VCV000004496; Zygosity=Heterozygous (Coriell=GM27104).
Disease Rigid spine muscular dystrophy 1 (NCIt: C126691)
Rigid spine syndrome (ORDO: Orphanet_97244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27104
Encyclopedic resources Wikidata; Q93933002
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10