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Cellosaurus WG3280 (CVCL_B4EP)

[Text version]
Cell line name WG3280
Accession CVCL_B4EP
Resource Identification Initiative To cite this cell line use: WG3280 (RRID:CVCL_B4EP)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Lebanese.
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; 25221; MMADHC; Simple; p.Leu21Ilefs*2 (c.60_61insAT); ClinVar=VCV000219001; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19058814).
  • Mutation; HGNC; 25221; MMADHC; Simple; p.Cys153Metfs*10 (c.455dupC); ClinVar=VCV000219002; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19058814).
Disease Methylmalonic aciduria and homocystinuria, cblD type (NCIt: C183524)
Methylmalonic acidemia with homocystinuria, type cblD (ORDO: Orphanet_79283)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Publications

PubMed=19058814; DOI=10.1016/j.jpeds.2008.10.043
Miousse I.R., Watkins D., Coelho D., Rupar T., Crombez E.A., Vilain E., Bernstein J.A., Cowan T., Lee-Messer C., Enns G.M., Fowler B., Rosenblatt D.S.
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
J. Pediatr. 154:551-556(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; Q110434291
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4