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Cellosaurus WG2625 (CVCL_B3YU)

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Cell line name WG2625
Accession CVCL_B3YU
Resource Identification Initiative To cite this cell line use: WG2625 (RRID:CVCL_B3YU)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Omics: Genomics; Whole genome sequencing.
Omics: Transcriptomics; RNAseq.
Donor information: Established from a patient which had elevated level of methylmalonic acid thus was originally diagnosed as suffering from methylmalonic acidemia.
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:2548; CUBN; Simple; p.Ser3329Leu (c.9986C>T); ClinVar=VCV000532212; Zygosity=Heterozygous (PubMed=31462756).
  • Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Glu584Ter (c.1749_1750delGGinsTT); Zygosity=Heterozygous (PubMed=31462756).
  • Mutation; HGNC; HGNC:8653; PCCA; Unexplicit; Ex21 intragenic 9-kb duplication; Zygosity=Heterozygous (PubMed=31462756).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8M
Category Finite cell line
Publications

PubMed=31462756; DOI=10.1038/s41436-019-0640-9
Lina Sobhi Abdrabo, David Watkins, Sophie Ran Wang, Joel Lafond-Lapalme, Jean-Baptiste Riviere, David S. Rosenblatt;
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Genet. Med. 22:432-436(2020)

Cross-references
Encyclopedic resources Wikidata; Q110434165
Entry history
Entry creation16-Dec-2021
Last entry update10-Apr-2025
Version number7