ID   WG0026
AC   CVCL_B3VL
SY   WG26; GK09
DR   Wikidata; Q110433973
RX   PubMed=8103405;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:93; ACAT1; Simple; c.1163+2T>C (IVS11,T-C,+2); ClinVar=VCV000002837; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=8103405).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98841; Alpha-methylacetoacetic aciduria
DI   ORDO; Orphanet_134; Beta-ketothiolase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=8103405; DOI=10.1002/humu.1380020310;
RA   Fukao T., Yamaguchi S., Scriver C.R., Dunbar G., Wakazono A., Kano M.,
RA   Orii T., Hashimoto T.;
RT   "Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase
RT   deficiency in the two original families.";
RL   Hum. Mutat. 2:214-220(1993).
//