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Cellosaurus WG3646 (CVCL_B4F7)

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Cell line name WG3646
Accession CVCL_B4F7
Resource Identification Initiative To cite this cell line use: WG3646 (RRID:CVCL_B4F7)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Mexican.
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:25221; MMADHC; Simple; p.Ser228Ter (c.683C>G); ClinVar=VCV002507317; Zygosity=Homozygous (from autologous cell line WG3583).
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)
Originate from same individual CVCL_B4EQ ! WG3583
Sex of cell Female
Age at sampling Children
Category Finite cell line
Publications

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

PubMed=22832074; DOI=10.1016/j.ymgme.2012.07.001
Justin C. Deme, Isabelle Racine Miousse, Maria Plesa, Jaeseung C. Kim, Mark A. Hancock, Wayne Mah, David S. Rosenblatt, James W. Coulton;
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
Mol. Genet. Metab. 107:352-362(2012)

Cross-references
Encyclopedic resources Wikidata; Q110434362
Entry history
Entry creation16-Dec-2021
Last entry update27-Nov-2025
Version number7