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Cellosaurus WG3374 (CVCL_B4DR)

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Cell line name WG3374
Accession CVCL_B4DR
Resource Identification Initiative To cite this cell line use: WG3374 (RRID:CVCL_B4DR)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; French Canadian.
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.Asn219Tyr (c.655A>T); ClinVar=VCV000001886; Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Glu414Lysfs*17 (c.1240delG); 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 2M
Category Finite cell line
Publications

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; Q110434314
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5