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Cellosaurus WG1401 (CVCL_QZ27)

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Cell line name WG1401
Accession CVCL_QZ27
Resource Identification Initiative To cite this cell line use: WG1401 (RRID:CVCL_QZ27)
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.Leu6_Leu7del (c.16del6); Zygosity=Heterozygous (PubMed=10484769).
  • Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Leu333Val (c.997C>G); ClinVar=VCV000354359; 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
Category Finite cell line
Publications

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

PubMed=10484769; DOI=10.1093/hmg/8.11.2009
Aaron Wilson, Daniel Leclerc, David S. Rosenblatt, Roy A. Gravel;
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; Q54993876
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10