ID   WG1146
AC   CVCL_QZ19
DR   Wikidata; Q54993852
RX   PubMed=1627355;
RX   PubMed=9235907;
RX   PubMed=9501215;
RX   PubMed=10484769;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Val56Met (c.166G>A); ClinVar=VCV001176807; Zygosity=Heterozygous (PubMed=9501215; PubMed=10484769).
CC   Sequence variation: Mutation; HGNC; HGNC:7473; MTRR; Simple; c.1675del4; ClinVar=VCV000007027; Zygosity=Heterozygous (PubMed=9501215; PubMed=10484769).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142173; Homocystinuria-megaloblastic anemia, cblE complementation type
DI   ORDO; Orphanet_2169; Methylcobalamin deficiency type cblE
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   <1Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
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RX   PubMed=1627355; DOI=10.1016/0885-4505(92)90032-T;
RA   Sillaots S.L., Hall C.A., Hurteloup V., Rosenblatt D.S.;
RT   "Heterogeneity in cblG: differential retention of cobalamin on
RT   methionine synthase.";
RL   Biochem. Med. Metab. Biol. 47:242-249(1992).
//
RX   PubMed=9235907; DOI=10.1074/jbc.272.31.19171;
RA   Gulati S., Chen Z.-Q., Brody L.C., Rosenblatt D.S., Banerjee R.;
RT   "Defects in auxiliary redox proteins lead to functional methionine
RT   synthase deficiency.";
RL   J. Biol. Chem. 272:19171-19175(1997).
//
RX   PubMed=9501215; DOI=10.1073/pnas.95.6.3059; PMCID=PMC19694;
RA   Leclerc D., Wilson A., Dumas R., Gafuik C.J., Song D., Watkins D.,
RA   Heng H.H.-Q., Rommens J.M., Scherer S.W., Rosenblatt D.S., Gravel R.A.;
RT   "Cloning and mapping of a cDNA for methionine synthase reductase, a
RT   flavoprotein defective in patients with homocystinuria.";
RL   Proc. Natl. Acad. Sci. U.S.A. 95:3059-3064(1998).
//
RX   PubMed=10484769; DOI=10.1093/hmg/8.11.2009;
RA   Wilson A., Leclerc D., Rosenblatt D.S., Gravel R.A.;
RT   "Molecular basis for methionine synthase reductase deficiency in
RT   patients belonging to the cblE complementation group of disorders in
RT   folate/cobalamin metabolism.";
RL   Hum. Mol. Genet. 8:2009-2016(1999).
//