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Cellosaurus WG1296 (CVCL_QZ22)

[Text version]
Cell line name WG1296
Accession CVCL_QZ22
Resource Identification Initiative To cite this cell line use: WG1296 (RRID:CVCL_QZ22)
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; c.903+469T>C; ClinVar=VCV000662553; Zygosity=Heterozygous (PubMed=10484769).
  • Mutation; HGNC; HGNC:7473; MTRR; Simple; p.Val488_Lys519del (c.1557-4_1557+3del7) (c.1554del7); 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
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=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; Q54993866
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10