Cellosaurus logo
expasy logo

Cellosaurus GM27144 (CVCL_XC53)

[Text version]
Cell line name GM27144
Accession CVCL_XC53
Resource Identification Initiative To cite this cell line use: GM27144 (RRID:CVCL_XC53)
Comments Population: Caucasian; English/German/Irish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000974929; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27144).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XC54 ! GM27145
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27144
Encyclopedic resources Wikidata; Q93933035
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11