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Cellosaurus WG2436 (CVCL_B3YS)

[Text version]
Cell line name WG2436
Accession CVCL_B3YS
Resource Identification Initiative To cite this cell line use: WG2436 (RRID:CVCL_B3YS)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Omics: Genome sequenced.
Omics: Transcriptome analysis by RNAseq.
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:4268; CBLIF; Simple; p.Lys145del (c.432GAA[1]) (c.435_437delGAA); ClinVar=VCV000208192; Zygosity=Heterozygous (PubMed=31462756).
Disease Methylmalonic acidemia (NCIt: C98986)
Methylmalonic acidemia without homocystinuria (ORDO: Orphanet_293355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8M
Category Finite cell line
Publications

PubMed=31462756; DOI=10.1038/s41436-019-0640-9
Abdrabo L.S., Watkins D., Wang S.R., Lafond-Lapalme J., Riviere J.-B., Rosenblatt D.S.
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Genet. Med. 22:432-436(2020)

Cross-references
Encyclopedic resources Wikidata; Q110434131
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5