ID   GM02795
AC   CVCL_F027
SY   GM 2795; GM2795; GM02795A
DR   CLO; CLO_0014778
DR   BioSample; SAMN00808119
DR   Coriell; GM02795
DR   Wikidata; Q54837690
RX   CelloPub=CLPUB00447;
RX   PubMed=1766867;
RX   PubMed=2011574;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (PubMed=2011574).
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (PubMed=2011574).
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_D342 ! GM00054
OI   CVCL_F026 ! GM01907
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 02-05-24; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510;
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; PMCID=PMC51292;
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).
//