ID   WG2317
AC   CVCL_QZ39
DR   Wikidata; Q54993978
RX   PubMed=10484769;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Arg114Ter (c.340C>T); ClinVar=VCV000666994; Zygosity=Heterozygous (PubMed=10484769).
CC   Sequence variation: Mutation; HGNC; HGNC:7473; MTRR; Simple; c.903+469T>C; ClinVar=VCV000662553; Zygosity=Heterozygous (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)
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
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).
//