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Cellosaurus WG1173 (CVCL_B4GV)

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Cell line name WG1173
Accession CVCL_B4GV
Resource Identification Initiative To cite this cell line use: WG1173 (RRID:CVCL_B4GV)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; French Canadian.
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)
Originate from same individual CVCL_B4GU ! WG1087
Sex of cell Female
Age at sampling Children
Category Finite cell line
Publications

PubMed=19136951; DOI=10.1038/ng.294
Frank Rutsch, Susann Gailus, Isabelle Racine Miousse, Terttu Suormala, Corinne Sagne, Mohammad Reza Toliat, Gudrun Nurnberg, Tanja Wittkampf, Insa Buers, Azita Sharifi, Martin Stucki ...Show all 20 authors... , Christian Becker, Matthias R. Baumgartner, Horst Robenek, Thorsten Marquardt, Wolfgang Hohne, Bruno Gasnier, David S. Rosenblatt, Brian Fowler, Peter Nurnberg; Show fewer authors
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Nat. Genet. 41:234-239(2009)

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

Cross-references
Encyclopedic resources Wikidata; Q110434020
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5