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Cellosaurus WG2664 (CVCL_B3UL)

[Text version]
Cell line name WG2664
Accession CVCL_B3UL
Resource Identification Initiative To cite this cell line use: WG2664 (RRID:CVCL_B3UL)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
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; 18871; MMAA; Simple; p.Arg145Ter (c.433C>T); ClinVar=VCV000003160; Zygosity=Heterozygous (CelloPub=CLPUB00662).
  • Mutation; HGNC; 18871; MMAA; Simple; p.Thr198Serfs*6 (c.593_596delCTGA) (c.592_595del); ClinVar=VCV000203815; Zygosity=Heterozygous (CelloPub=CLPUB00662).
Disease Methylmalonic aciduria, cblA type (NCIt: C142171)
Vitamin B12-responsive methylmalonic acidemia type cblA (ORDO: Orphanet_79310)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

CLPUB00662
Yamani L.
Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism.
Thesis PhD (2008); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q110434176
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4