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Cellosaurus WG1618 (CVCL_QZ13)

[Text version]
Cell line name WG1618
Synonyms WG 1618
Accession CVCL_QZ13
Resource Identification Initiative To cite this cell line use: WG1618 (RRID:CVCL_QZ13)
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.His265Tyr (c.791C>T); Zygosity=Heterozygous (PubMed=16281286).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Gly426Arg (c.1276G>A); ClinVar=VCV000993879; Zygosity=Heterozygous (PubMed=16281286).
Disease Methylmalonic acidemia (NCIt: C98986)
Methylmalonic acidemia without homocystinuria (ORDO: Orphanet_293355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling Children
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=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; Q54993904
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9