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Cellosaurus GM13034 (CVCL_Y605)

[Text version]
Cell line name GM13034
Accession CVCL_Y605
Resource Identification Initiative To cite this cell line use: GM13034 (RRID:CVCL_Y605)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4451; GPC3; Simple; c.1292+1G>T (IVS5+1G>T); ClinVar=VCV000011688; Zygosity=Unspecified; Note=Splice donor mutation (Coriell=GM13034).
Disease Simpson Golabi Behmel syndrome type 1 (NCIt: C118787)
Simpson-Golabi-Behmel syndrome (ORDO: Orphanet_373)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6D
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13034
Cell line databases/resources CLO; CLO_0014038
Biological sample resources BioSample; SAMN00802034
Encyclopedic resources Wikidata; Q54846275
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14