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Cellosaurus WG1384 (CVCL_QZ25)

[Text version]
Cell line name WG1384
Accession CVCL_QZ25
Resource Identification Initiative To cite this cell line use: WG1384 (RRID:CVCL_QZ25)
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.Val54del (c.160_162delGTT); Zygosity=Heterozygous (PubMed=10484769).
  • Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Ala129Thr (c.385G>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)
Sex of cell Male
Age at sampling <5Y
Category Finite cell line
Publications

PubMed=1627355; DOI=10.1016/0885-4505(92)90032-T
Sillaots S.L., Hall C.A., Hurteloup V., Rosenblatt D.S.
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
Biochem. Med. Metab. Biol. 47:242-249(1992)

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; Q54993874
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10