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Cellosaurus GM28102 (CVCL_B0IL)

[Text version]
Cell line name GM28102
Accession CVCL_B0IL
Resource Identification Initiative To cite this cell line use: GM28102 (RRID:CVCL_B0IL)
Comments Population: Caucasian; Norwegian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Asp52Asn (c.154G>A); ClinVar=VCV001804228; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28102).
Disease SLC6A1-associated myoclonic-atonic epilepsy (NCIt: C191771)
Myoclonic-astastic epilepsy (ORDO: Orphanet_1942)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28102
Encyclopedic resources Wikidata; Q108820310
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number8