ID   WG1892
AC   CVCL_QZ35
DR   Wikidata; Q54993936
RX   PubMed=8968737;
RX   PubMed=9235907;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7468; MTR; Simple; p.Ile881del (c.2640_2642delAAT); ClinVar=VCV000014279; Zygosity=Heterozygous (PubMed=9235907).
CC   Sequence variation: Mutation; HGNC; HGNC:7468; MTR; Simple; p.Pro1173Leu (c.3518C>T); ClinVar=VCV000014278; Zygosity=Heterozygous (PubMed=9235907).
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)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
//
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).
//