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Cellosaurus WG4140 (CVCL_B4GK)

[Text version]
Cell line name WG4140
Accession CVCL_B4GK
Resource Identification Initiative To cite this cell line use: WG4140 (RRID:CVCL_B4GK)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; German.
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:68; ABCD4; Simple; c.542+1G>T; ClinVar=VCV000280107; Zygosity=Heterozygous; Note=Splice donor mutation (CelloPub=CLPUB00670; PubMed=22922874).
  • Mutation; HGNC; HGNC:68; ABCD4; Simple; p.Gly486Cys (c.1456G>T); ClinVar=VCV000037322; Zygosity=Heterozygous (CelloPub=CLPUB00670; PubMed=22922874).
Disease Methylmalonic aciduria and homocystinuria, cblJ type (NCIt: C183526)
Methylmalonic acidemia with homocystinuria, type cblJ (ORDO: Orphanet_369955)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Publications

CLPUB00670
Kim J.C.
Novel inborn error of vitamin B12 metabolism caused by mutations in ABCD4.
Thesis MSc (2012); McGill University Montreal; Montreal; Canada

PubMed=22922874; DOI=10.1038/ng.2386
Coelho D., Kim J.C., Miousse I.R., Fung S., du Moulin M., Buers I., Suormala T., Burda P., Frapolli M., Stucki M., Nurnberg P., Thiele H., Robenek H., Hohne W., Longo N., Pasquali M., Mengel E., Watkins D., Shoubridge E.A., Majewski J., Rosenblatt D.S., Fowler B., Rutsch F., Baumgartner M.R.
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nat. Genet. 44:1152-1155(2012)

Cross-references
Encyclopedic resources Wikidata; Q110434402
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5