ID   WG1505
AC   CVCL_QZ29
DR   Wikidata; Q54993878
RX   PubMed=1627355;
RX   PubMed=9235907;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
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   1Y5M
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//