ID   GM01673
AC   CVCL_0D84
SY   GM1673; GM-1673
DR   CLO; CLO_0030951
DR   BioSample; SAMN00807059
DR   Coriell; GM01673
DR   Wikidata; Q54837006
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7909321;
CC   Population: Caucasian.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C148366; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
DI   ORDO; Orphanet_27; Vitamin B12-unresponsive methylmalonic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1D
CA   Finite cell line
DT   Created: 10-04-15; 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=7909321; DOI=10.1172/JCI117166;
RA   Qureshi A.A., Crane A.M., Matiaszuk N.V., Rezvani I., Ledley F.D.,
RA   Rosenblatt D.S.;
RT   "Cloning and expression of mutations demonstrating intragenic
RT   complementation in mut0 methylmalonic aciduria.";
RL   J. Clin. Invest. 93:1812-1819(1994).
//