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Cellosaurus (CVCL_UF44)

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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; HGNC:7526; MMUT; Simple; p.Arg93His (c.278G>A); ClinVar=VCV000001880; Zygosity=Heterozygous (PubMed=16281286).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Gln514Argfs*24 (c.1541delA); Zygosity=Heterozygous (PubMed=16281286).
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 Children
Category Finite cell line
Publications




Hum. Mutat. 11:270-274(1998)

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