ID   GM01655
AC   CVCL_D514
SY   GM-1655; GM 1655; GM1655
DR   CLO; CLO_0030943
DR   BioSample; SAMN00807033
DR   Coriell; GM01655
DR   Wikidata; Q54836987
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2241958;
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; HGNC:986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (PubMed=2241958).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34806; Maple syrup urine disease
DI   ORDO; Orphanet_511; Maple syrup urine disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D513 ! GM01654
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 18
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=2241958; DOI=10.1016/0006-291X(90)90723-Z;
RA   Matsuda, Ichiro
RA   Nobukuni, Yoshitaka
RA   Mitsubuchi, Hiroshi
RA   Indo, Yasuhiro
RA   Endo, Fumio
RA   Asaka, Junichiro
RA   Harada, Atsuko
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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//