ID   GM17477
AC   CVCL_IM21
DR   CLO; CLO_0012934
DR   Coriell; GM17477
DR   Wikidata; Q54848913
CC   Population: Chinese/Asian ethnic group; Hmong.
CC   Sequence variation: Mutation; HGNC; HGNC:91; ACADSB; Simple; p.Met389Val (c.1165A>G); ClinVar=VCV000664690; Zygosity=Homozygous (Coriell=GM17477).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98863; Butyryl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_79157; 2-methylbutyryl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3W
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
//