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Cellosaurus WG2366 (CVCL_QZ38)

[Text version]
Cell line name WG2366
Accession CVCL_QZ38
Resource Identification Initiative To cite this cell line use: WG2366 (RRID:CVCL_QZ38)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Gly487Arg (c.1459G>A); ClinVar=VCV000007030; Zygosity=Heterozygous (PubMed=10484769).
  • Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Gly554Arg (c.1660G>A); Zygosity=Heterozygous (PubMed=10484769).
Disease Homocystinuria-megaloblastic anemia, cblE complementation type (NCIt: C142173)
Methylcobalamin deficiency type cblE (ORDO: Orphanet_2169)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=9235907; DOI=10.1074/jbc.272.31.19171
Gulati S., Chen Z.-Q., Brody L.C., Rosenblatt D.S., Banerjee R.
Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
J. Biol. Chem. 272:19171-19175(1997)

PubMed=10484769; DOI=10.1093/hmg/8.11.2009
Wilson A., Leclerc D., Rosenblatt D.S., Gravel R.A.
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Hum. Mol. Genet. 8:2009-2016(1999)

Cross-references
Encyclopedic resources Wikidata; Q54993979
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10