ID   GM00148
AC   CVCL_9Q63
SY   GM-148; GM148; GM 148
DR   Coriell; GM00148
DR   Wikidata; Q54836064
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1766867;
RX   PubMed=2011574;
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; GM00148; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 10
//
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).
//
RX   PubMed=1766867; DOI=10.1093/nar/19.25.7049;
RA   Reichardt J.K.V.;
RT   "Molecular analysis of 11 galactosemia patients.";
RL   Nucleic Acids Res. 19:7049-7052(1991).
//
RX   PubMed=2011574; DOI=10.1073/pnas.88.7.2633;
RA   Reichardt J.K.V., Woo S.L.C.;
RT   "Molecular basis of galactosemia: mutations and polymorphisms in the
RT   gene encoding human galactose-1-phosphate uridylyltransferase.";
RL   Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991).
//