Cellosaurus cell line WG0138 (CVCL

Cross-references
Cell line name	WG0138
Synonyms	WG138; GK08
Accession	CVCL_B3VK
Resource Identification Initiative	To cite this cell line use: WG0138 (RRID:CVCL_B3VK)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. 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; p.Met1Lys (c.2T>A); ClinVar=VCV000002838; Zygosity=Homozygous (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	Female
Category	Finite cell line
Publications	PubMed=8103405; DOI=10.1002/humu.1380020310 Toshiyuki Fukao, Seiji Yamaguchi, Charles Robert Scriver, Gail Dunbar, Akihiro Wakazono, Masatsugu Kano, Tadao Orii, Takashi Hashimoto; Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. Hum. Mutat. 2:214-220(1993)
Encyclopedic resources	Wikidata; Q110433984
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5