Cellosaurus logo
expasy logo

Cellosaurus WG1903 (CVCL_B4GW)

[Text version]
Cell line name WG1903
Accession CVCL_B4GW
Resource Identification Initiative To cite this cell line use: WG1903 (RRID:CVCL_B4GW)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; 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; Q110434072
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5