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Cellosaurus WG3293 (CVCL_B3UI)

[Text version]
Cell line name WG3293
Accession CVCL_B3UI
Resource Identification Initiative To cite this cell line use: WG3293 (RRID:CVCL_B3UI)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
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; 19331; MMAB; Simple; c.197-1G>T; ClinVar=VCV000219008; Zygosity=Homozygous; Note=Splice acceptor mutation (CelloPub=CLPUB00662).
Disease Methylmalonic aciduria, cblB type (NCIt: C142172)
Vitamin B12-responsive methylmalonic acidemia type cblB (ORDO: Orphanet_79311)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

CLPUB00662
Yamani L.
Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism.
Thesis PhD (2008); McGill University Montreal; Montreal; Canada

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)

Cross-references
Encyclopedic resources Wikidata; Q110434295
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4