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Cellosaurus GM23630 (CVCL_BX03)

[Text version]
Cell line name GM23630
Accession CVCL_BX03
Resource Identification Initiative To cite this cell line use: GM23630 (RRID:CVCL_BX03)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Leu276Ile (c.826C>A); ClinVar=VCV000004221; Zygosity=Homozygous (Coriell=GM23630).
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5 (NCIt: C126739)
FKRP-related limb-girdle muscular dystrophy R9 (ORDO: Orphanet_34515)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_BX13 ! GM23868
Sex of cell Female
Age at sampling 38Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23630
Encyclopedic resources Wikidata; Q54853167
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11