ID   GM01366
AC   CVCL_D872
SY   GM-1366; GM 1366
DR   CLO; CLO_0030842
DR   BioSample; SAMN00803824
DR   Coriell; GM01366
DR   Wikidata; Q54836785
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: African American.
CC   HLA typing: A*02,09; B*08,12 (Coriell=GM01366).
CC   Sequence variation: Mutation; HGNC; 2698; DBT; Simple; p.Glu224Ter (c.670G>T) (E163X); ClinVar=VCV000094009; Zygosity=Homozygous (Coriell=GM01366).
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_D871 ! GM01364
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 19
//
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   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).
//