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Cellosaurus WG3126 (CVCL_B4D7)

[Text version]
Cell line name WG3126
Accession CVCL_B4D7
Resource Identification Initiative To cite this cell line use: WG3126 (RRID:CVCL_B4D7)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
Miscellaneous: Cell line no longer available.
Miscellaneous: No MMUT mutations were detected.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11450; SUCLG2; Simple; p.Arg91Ser (c.273A>T); Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
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 4M
Category Finite cell line
Publications

PubMed=16281286; DOI=10.1002/humu.20258
Lisa C. Worgan, Kirsten Niles, Jamie C. Tirone, Adam Hofmann, Andrei Verner, Alya'a Sammak, Terrence Kucic, Pierre Lepage, David S. Rosenblatt;
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Hum. Mutat. 27:31-43(2006)

PubMed=27233228; DOI=10.1016/j.ymgme.2016.05.014
Jordan Chu, Mihaela Pupavac, David Watkins, Xia Tian, Yan-Ming Feng, Stella Chen, Remington Fenter, Victor W. Zhang, Jing Wang, Lee-Jun Wong, David S. Rosenblatt;
Next generation sequencing of patients with mut methylmalonic aciduria: validation of somatic cell studies and identification of 16 novel mutations.
Mol. Genet. Metab. 118:264-271(2016)

CLPUB00669
Jordan Chu;
Investigation of patients diagnosed with mut methylmalonic aciduria.
Thesis MSc (2017); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q110434260
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5