Cellosaurus cell line (CVCL

Cross-references
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Chinese; Taiwan. 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.Gly427Asp (c.1280G>A); ClinVar=VCV000218990; Zygosity=Heterozygous (PubMed=16281286). Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Gly544Ter (c.1630_1631delGGinsTA); ClinVar=VCV000203860; 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	Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Age at sampling	Children
Category	Finite cell line
Publications	Hum. Mutat. 11:270-274(1998)
Encyclopedic resources	Wikidata; Q110434234
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5