ID   GM00422
AC   CVCL_1Y19
SY   GM-422; GM 422
DR   CLO; CLO_0026124
DR   Coriell; GM00422
DR   Wikidata; Q54836211
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1766867;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM00422).
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln344Lys (c.1030C>A); ClinVar=VCV000025320; Zygosity=Heterozygous (Coriell=GM00422).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 17
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510;
RA   Reichardt, Juergen K.V.
RT   "Molecular analysis of 11 galactosemia patients.";
RL   Nucleic Acids Res. 19:7049-7052(1991).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//