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Cellosaurus WG1510 (CVCL_B3ZK)

[Text version]
Cell line name WG1510
Accession CVCL_B3ZK
Resource Identification Initiative To cite this cell line use: WG1510 (RRID:CVCL_B3ZK)
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.Leu346del (c.1036_1038delCTT); Zygosity=Homozygous (PubMed=9554742; 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)
Sex of cell Sex unspecified
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=9554742; DOI=10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T
Adjalla C.-E., Hosack A.R., Gilfix B.M., Lamothe E., Sun S., Chan A., Evans S., Matiaszuk N.V., Rosenblatt D.S.
Seven novel mutations in mut methylmalonic aciduria.
Hum. Mutat. 11:270-274(1998)

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; Q110434037
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5