Cellosaurus cell line (CVCL

Entry history
Comments	Population: African American. 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.Arg369Cys (c.1105C>T); ClinVar=VCV000218989; Zygosity=Heterozygous (PubMed=16281286). Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Gly717Val (c.2150G>T); ClinVar=VCV000001881; 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
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5