ID   GM01128
AC   CVCL_2H11
SY   GM1128; GM-1128
DR   CLO; CLO_0030162
DR   BioSample; SAMN00803646
DR   Coriell; GM01128
DR   Wikidata; Q54836656
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8528202;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1550; CBS; Simple; p.Gly307Ser (c.919G>A); ClinVar=VCV000000117; Zygosity=Heterozygous (PubMed=8528202).
CC   Sequence variation: Mutation; HGNC; 1550; CBS; Simple; p.Val454Glu (c.1361T>A); ClinVar=VCV002138391; Zygosity=Heterozygous (PubMed=8528202).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84765; Homocystinuria
DI   ORDO; Orphanet_394; Classic homocystinuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 14
//
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   CelloPub=CLPUB00720;
RA   Greene A.E., Mulivor R.A.;
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda (1986).
//
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=8528202; DOI=10.1093/hmg/4.7.1155;
RA   Kruger W.D., Cox D.R.;
RT   "A yeast assay for functional detection of mutations in the human
RT   cystathionine beta-synthase gene.";
RL   Hum. Mol. Genet. 4:1155-1161(1995).
//