Cellosaurus logo
expasy logo

Cellosaurus GM24202 (CVCL_BX16)

[Text version]
Cell line name GM24202
Accession CVCL_BX16
Resource Identification Initiative To cite this cell line use: GM24202 (RRID:CVCL_BX16)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:19139; POMGNT1; Simple; c.1895+1G>T; ClinVar=VCV000056593; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24202).
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 (NCIt: C126740)
Walker-Warburg syndrome (ORDO: Orphanet_899)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24202
Encyclopedic resources Wikidata; Q54853623
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12