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Cellosaurus WG3265 (CVCL_B4GR)

[Text version]
Cell line name WG3265
Accession CVCL_B4GR
Resource Identification Initiative To cite this cell line use: WG3265 (RRID:CVCL_B4GR)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 23038; LMBRD1; Simple; p.Thr172Argfs*10 (c.515_516delAC); ClinVar=VCV000000517; Zygosity=Homozygous (CelloPub=CLPUB00671; PubMed=19136951).
Disease Methylmalonic aciduria and homocystinuria, cblF type (NCIt: C183525)
Methylmalonic acidemia with homocystinuria type cblF (ORDO: Orphanet_79284)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Publications

PubMed=19136951; DOI=10.1038/ng.294
Rutsch F., Gailus S., Miousse I.R., Suormala T., Sagne C., Toliat M.R., Nurnberg G., Wittkampf T., Buers I., Sharifi A., Stucki M., Becker C., Baumgartner M.R., Robenek H., Marquardt T., Hohne W., Gasnier B., Rosenblatt D.S., Fowler B., Nurnberg P.
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Nat. Genet. 41:234-239(2009)

CLPUB00671
Miousse I.R.
Investigations into the early steps of cobalamin metabolism.
Thesis PhD (2011); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q110434290
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4