ID   GM28746
AC   CVCL_D6YA
DR   Coriell; GM28746
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:986; BCKDHA; Simple; p.Arg339Gln (c.1196G>A); Zygosity=Heterozygous (Coriell=GM28746).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000203855; Zygosity=Heterozygous (Coriell=GM28746).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Ala324Thr (c.970G>A); ClinVar=VCV000550893; Zygosity=Heterozygous (Coriell=GM28746).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148366; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
DI   ORDO; Orphanet_27; Vitamin B12-unresponsive methylmalonic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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