ID   GM01364
AC   CVCL_D871
SY   GM1364; GM-1364; GM 1364
DR   CLO; CLO_0030843
DR   BioSample; SAMN00803822
DR   Coriell; GM01364
DR   Wikidata; Q54836784
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 2698; DBT; Simple; p.Glu224Ter (c.670G>T) (E163X); ClinVar=VCV000094009; Zygosity=Homozygous (Coriell=GM01364).
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)
OI   CVCL_D872 ! GM01366
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 18
//
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).
//