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Cellosaurus WG2147 (CVCL_B3UH)

[Text version]
Cell line name WG2147
Accession CVCL_B3UH
Resource Identification Initiative To cite this cell line use: WG2147 (RRID:CVCL_B3UH)
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; 19331; MMAB; Simple; p.Val188_Ala192dup (c.563_577dupTGTGCCGCCGGGCCG); ClinVar=VCV000203822; Zygosity=Homozygous (CelloPub=CLPUB00662).
Disease Methylmalonic aciduria, cblB type (NCIt: C142172)
Vitamin B12-responsive methylmalonic acidemia type cblB (ORDO: Orphanet_79311)
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; Q110434088
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4