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Cellosaurus WG2319 (CVCL_B4D5)

[Text version]
Cell line name WG2319
Accession CVCL_B4D5
Resource Identification Initiative To cite this cell line use: WG2319 (RRID:CVCL_B4D5)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; Irish/Italian.
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:11449; SUCLG1; Simple; p.Glu145Lys (c.433G>A); Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
  • Mutation; HGNC; HGNC:11449; SUCLG1; Simple; p.Asn171His (c.511A>C); Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
Disease Mitochondrial DNA depletion syndrome-9 (NCIt: C183531)
Fatal infantile lactic acidosis with methylmalonic aciduria (ORDO: Orphanet_17)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling 3W
Category Finite cell line
Publications

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)

PubMed=27233228; DOI=10.1016/j.ymgme.2016.05.014
Chu J., Pupavac M., Watkins D., Tian X., Feng Y.-M., Chen S., Fenter R., Zhang V.W., Wang J., Wong L.-J., Rosenblatt D.S.
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
Chu J.
Investigation of patients diagnosed with mut methylmalonic aciduria.
Thesis MSc (2017); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q110434108
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5