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Cellosaurus GM27145 (CVCL_XC54)

[Text version]
Cell line name GM27145
Accession CVCL_XC54
Resource Identification Initiative To cite this cell line use: GM27145 (RRID:CVCL_XC54)
Comments Population: Caucasian; English/German/Irish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000974929; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27145).
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_XC53 ! GM27144
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27145
Encyclopedic resources Wikidata; Q93933036
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number12