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Cellosaurus WG0026 (CVCL_B3VL)

[Text version]
Cell line name WG0026
Synonyms WG26; GK09
Accession CVCL_B3VL
Resource Identification Initiative To cite this cell line use: WG0026 (RRID:CVCL_B3VL)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; Dutch.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:93; ACAT1; Simple; c.1163+2T>C (IVS11,T-C,+2); ClinVar=VCV000002837; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=8103405).
Disease Alpha-methylacetoacetic aciduria (NCIt: C98841)
Beta-ketothiolase deficiency (ORDO: Orphanet_134)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Publications

PubMed=8103405; DOI=10.1002/humu.1380020310
Fukao T., Yamaguchi S., Scriver C.R., Dunbar G., Wakazono A., Kano M., Orii T., Hashimoto T.
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families.
Hum. Mutat. 2:214-220(1993)

Cross-references
Encyclopedic resources Wikidata; Q110433973
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5