ID   GM02796
AC   CVCL_F484
SY   GM 2796; GM2796
DR   CLO; CLO_0014777
DR   BioSample; SAMN00808120
DR   Coriell; GM02796
DR   Wikidata; Q54837691
RX   CelloPub=CLPUB00447;
RX   PubMed=1766867;
RX   PubMed=2011574;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (Coriell=GM02796).
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (Coriell=GM02796).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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)
OI   CVCL_2779 ! CHP 4 (W.W.)
OI   CVCL_F483 ! GM01908
SX   Male
AG   15Y
CA   Transformed cell line
DT   Created: 11-02-13; 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   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).
//