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Cellosaurus WG4008 (CVCL_B4GZ)

[Text version]
Cell line name WG4008
Accession CVCL_B4GZ
Resource Identification Initiative To cite this cell line use: WG4008 (RRID:CVCL_B4GZ)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
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=Heterozygous (CelloPub=CLPUB00671).
  • Mutation; HGNC; HGNC:23038; LMBRD1; Simple; c.1339-1G>T; ClinVar=VCV001323238; Zygosity=Heterozygous; Note=Splice acceptor mutation (CelloPub=CLPUB00671; PubMed=21303734).
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 Female
Age at sampling Children
Category Finite cell line
Publications

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

PubMed=21303734; DOI=10.1016/j.ymgme.2011.01.002
Miousse I.R., Watkins D., Rosenblatt D.S.
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Mol. Genet. Metab. 102:505-507(2011)

Cross-references
Encyclopedic resources Wikidata; Q110434393
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6