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Cellosaurus GM24528 (CVCL_YP31)

[Text version]
Cell line name GM24528
Accession CVCL_YP31
Resource Identification Initiative To cite this cell line use: GM24528 (RRID:CVCL_YP31)
Comments Population: Caucasian; Macedonian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg2578Ter (c.7732C>T); ClinVar=VCV000014296; Zygosity=Unspecified (Coriell=GM24528).
Disease Merosin-deficient congenital muscular dystrophy type 1A (NCIt: C118783)
Laminin subunit alpha 2-related congenital muscular dystrophy (ORDO: Orphanet_258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24528
Encyclopedic resources Wikidata; Q93930128
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8