ID   GM01210
AC   CVCL_1Y24
SY   GM-1210
DR   CLO; CLO_0030258
DR   BioSample; SAMN00803718
DR   Coriell; GM01210
DR   Wikidata; Q54836705
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Latino or Hispanic; Dominican.
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Asp98His (c.292G>C); ClinVar=VCV000025149; Zygosity=Homozygous (Coriell=GM01210).
CC   Donor information: Established from monozygotic twin of GM01209 (Cellosaurus=CVCL_1Y23).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 17
//
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   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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//