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Cellosaurus WG1511 (CVCL_QZ14)

[Text version]
Cell line name WG1511
Synonyms WG 1511; Yale 589
Accession CVCL_QZ14
Resource Identification Initiative To cite this cell line use: WG1511 (RRID:CVCL_QZ14)
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; HGNC:7526; MMUT; Simple; p.His678Arg (c.2033A>G); Zygosity=Homozygous (PubMed=7909321; PubMed=9285782).
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)
Category Finite cell line
Publications

PubMed=7909321; DOI=10.1172/JCI117166; PMCID=PMC294249
Qureshi A.A., Crane A.M., Matiaszuk N.V., Rezvani I., Ledley F.D., Rosenblatt D.S.
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
J. Clin. Invest. 93:1812-1819(1994)

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)

Cross-references
Encyclopedic resources Wikidata; Q54993880
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11