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Cellosaurus WG3017 (CVCL_B4CE)

[Text version]
Cell line name WG3017
Accession CVCL_B4CE
Resource Identification Initiative To cite this cell line use: WG3017 (RRID:CVCL_B4CE)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
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:7526; MMUT; Simple; p.Ile412del (c.1230CAT[1]) (c.1233_1235delCAT); ClinVar=VCV000978689; Zygosity=Heterozygous (PubMed=16281286).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; c.1957-2A>G; ClinVar=VCV000555787; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=16281286).
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (NCIt: C148366)
Vitamin B12-unresponsive methylmalonic acidemia (ORDO: Orphanet_27)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling Children
Category Finite cell line
Publications

PubMed=16281286; DOI=10.1002/humu.20258
Worgan L.C., Niles K., Tirone J.C., Hofmann A., Verner A., Sammak A., Kucic T., Lepage P., Rosenblatt D.S.
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Hum. Mutat. 27:31-43(2006)

Cross-references
Encyclopedic resources Wikidata; Q110434230
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5