ID   GM01099
AC   CVCL_AD62
SY   GM1099; GM-1099; GM 1099
DR   CLO; CLO_0030187
DR   BioSample; SAMN00803628
DR   Coriell; GM01099
DR   Wikidata; Q54836645
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2241958;
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; 986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (PubMed=2241958).
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   Female
AG   8M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 13
//
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=2241958; DOI=10.1016/0006-291X(90)90723-Z;
RA   Matsuda I., Nobukuni Y., Mitsubuchi H., Indo Y., Endo F., Asaka J.,
RA   Harada A.;
RT   "A T-to-A substitution in the E1 alpha subunit gene of the
RT   branched-chain alpha-ketoacid dehydrogenase complex in two cell lines
RT   derived from Menonite maple syrup urine disease patients.";
RL   Biochem. Biophys. Res. Commun. 172:646-651(1990).
//