ID   GM00649
AC   CVCL_AD59
SY   GM0649; GM-649; GM649; GM00649A
DR   CLO; CLO_0028853
DR   Coriell; GM00649
DR   Wikidata; Q54836376
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8037208;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 986; BCKDHA; Simple; p.Gly288Valfs*11 (c.861_868delAGGCCCCG); ClinVar=VCV000198433; Zygosity=Heterozygous (PubMed=8037208).
CC   Sequence variation: Mutation; HGNC; 986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Heterozygous (PubMed=8037208).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C34806; Maple syrup urine disease
DI   ORDO; Orphanet_511; Maple syrup urine disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   CelloPub=CLPUB00720;
RA   Greene A.E., Mulivor R.A.;
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda (1986).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=8037208;
RA   Chuang J.L., Fisher C.R., Cox R.P., Chuang D.T.;
RT   "Molecular basis of maple syrup urine disease: novel mutations at the
RT   E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease
RT   steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid
RT   dehydrogenase complex.";
RL   Am. J. Hum. Genet. 55:297-304(1994).
//