ID   GM01559
AC   CVCL_2H23
SY   GM-1559
DR   CLO; CLO_0031479
DR   Coriell; GM01559
DR   Wikidata; Q54836901
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8528202;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1550; CBS; Simple; p.Arg224His (c.676G>A); Zygosity=Heterozygous (PubMed=8528202).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2G97 ! GM00585
SX   Male
AG   65-70Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
//
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=8528202; DOI=10.1093/hmg/4.7.1155;
RA   Kruger, Warren D.
RA   Cox, David 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).
//
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).
//