ID   GM00751
AC   CVCL_2H01
SY   GM0751; GM-751
DR   CLO; CLO_0028823
DR   Coriell; GM00751
DR   Wikidata; Q54836439
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1550; CBS; Simple; p.Ile278Thr (c.833T>C); ClinVar=VCV000000120; Zygosity=Unspecified (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   19Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 11
//
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   CelloPub=CLPUB00720;
RA   Greene, Arthur E.
RA   Mulivor, Richard A.
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986).
//
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).
//