ID   WG1671
AC   CVCL_QZ34
DR   Wikidata; Q54993916
RX   CelloPub=CLPUB00662;
RX   PubMed=1627355;
RX   PubMed=8968737;
RX   PubMed=9235907;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; 7468; MTR; Simple; c.340-166A>G; ClinVar=VCV000014281; Zygosity=Heterozygous (CelloPub=CLPUB00662).
CC   Sequence variation: Mutation; HGNC; 7468; MTR; Simple; p.Leu705Glnfs*4 (c.2114_2115delTC) (c.2112_2113delTC); ClinVar=VCV000014282; Zygosity=Heterozygous (CelloPub=CLPUB00662).
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; C99081; Arakawa syndrome II
DI   ORDO; Orphanet_2170; Methylcobalamin deficiency type cblG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   CelloPub=CLPUB00662;
RA   Yamani L.;
RT   "Studies on transcobalamin in cultured fibroblasts from patients with
RT   inborn errors of cobalamin metabolism.";
RL   Thesis PhD (2008); McGill University Montreal; Montreal; Canada.
//
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=8968737; DOI=10.1093/hmg/5.12.1867;
RA   Leclerc D., Campeau E., Goyette P., Adjalla C.-E., Christensen B.,
RA   Ross M., Eydoux P., Rosenblatt D.S., Rozen R., Gravel R.A.;
RT   "Human methionine synthase: cDNA cloning and identification of
RT   mutations in patients of the cblG complementation group of
RT   folate/cobalamin disorders.";
RL   Hum. Mol. Genet. 5:1867-1874(1996).
//
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).
//