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Cellosaurus WG3972 (CVCL_B4DP)

[Text version]
Cell line name WG3972
Accession CVCL_B4DP
Resource Identification Initiative To cite this cell line use: WG3972 (RRID:CVCL_B4DP)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; Portuguese and Mexican and Southeast Asian; Lao/Thai.
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.Pro194Leu (c.581C>T); ClinVar=VCV001073632; Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000203855; 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 5D
Category Finite cell line
Publications

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; Q110434392
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5