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Cellosaurus GM26045 (CVCL_VP81)

[Text version]
Cell line name GM26045
Accession CVCL_VP81
Resource Identification Initiative To cite this cell line use: GM26045 (RRID:CVCL_VP81)
Comments Population: Caucasian; Amish.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:21701; BRAT1; Simple; p.Val214Glyfs*189 (c.638dupA) (c.638_639insA); ClinVar=VCV000031199; Zygosity=Homozygous (Coriell=GM26045).
Disease Lethal neonatal rigidity and multifocal seizure syndrome (NCIt: C154618)
Lethal neonatal spasticity-epileptic encephalopathy syndrome (ORDO: Orphanet_435845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 24D
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26045
Encyclopedic resources Wikidata; Q93932334
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number10