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Cellosaurus WG1600 (CVCL_B4D4)

[Text version]
Cell line name WG1600
Synonyms Yale 394
Accession CVCL_B4D4
Resource Identification Initiative To cite this cell line use: WG1600 (RRID:CVCL_B4D4)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Miscellaneous: Cell line no longer available.
Miscellaneous: Second MMUT mutation was not detected.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
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 Age unspecified
Category Finite cell line
Publications

PubMed=9285782; DOI=10.1093/hmg/6.9.1457
Janata J., Kogekar N., Fenton W.A.
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
Hum. Mol. Genet. 6:1457-1464(1997)

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; Q110434043
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5