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Cellosaurus WG3514 (CVCL_B3WZ)

[Text version]
Cell line name WG3514
Accession CVCL_B3WZ
Resource Identification Initiative To cite this cell line use: WG3514 (RRID:CVCL_B3WZ)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; Italian and Hispanic.
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; 24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668; PubMed=19370762).
  • Mutation; HGNC; 24525; MMACHC; Simple; p.Tyr222Ter (c.666C>A); ClinVar=VCV000496436; Zygosity=Heterozygous (CelloPub=CLPUB00668; PubMed=19370762).
Disease Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174)
Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Finite cell line
Publications

PubMed=19370762; DOI=10.1002/humu.21001
Lerner-Ellis J.P., Anastasio N., Liu J.-H., Coelho D., Suormala T., Stucki M., Loewy A.D., Gurd S., Grundberg E., Morel C.F., Watkins D., Baumgartner M.R., Pastinen T., Rosenblatt D.S., Fowler B.
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Hum. Mutat. 30:1072-1081(2009)

CLPUB00668
Anastasio N.
Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease.
Thesis MSc (2010); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q110434341
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4