ID   GM00885
AC   CVCL_2H09
SY   GM0885; GM-885
DR   CLO; CLO_0029611
DR   Coriell; GM00885
DR   Wikidata; Q54836508
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1550; CBS; Simple; p.Ile278Thr (c.833T>C); ClinVar=VCV000000120; Zygosity=Heterozygous (from familial inference of GM01808).
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   Male
AG   17Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 10
//
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).
//