Cellosaurus logo
expasy logo

Cellosaurus WG3646 (CVCL_B4F7)

[Text version]
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); 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
Kim J.C.
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
Deme J.C., Miousse I.R., Plesa M., Kim J.C., Hancock M.A., Mah W., Rosenblatt D.S., Coulton J.W.
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 update19-Dec-2024
Version number6