Cellosaurus cell line WG1600 (CVCL

Cellosaurus WG1600 (CVCL_B4D4)

Cross-references
Cell line name	WG1600
Synonyms	Yale 394
Accession	CVCL_B4D4
Resource Identification Initiative	To cite this cell line use: WG1600 (RRID:CVCL_B4D4)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Miscellaneous: Cell line no longer available. Miscellaneous: Second MMUT mutation was not detected. 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.Tyr231Asn (c.691T>A); ClinVar=VCV000218992; Zygosity=Heterozygous (PubMed=9285782; 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	Age unspecified
Category	Finite cell line
Publications	PubMed=9285782; DOI=10.1093/hmg/6.9.1457 Jiri Janata, Nandini Kogekar, Wayne A. Fenton; Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. Hum. Mol. Genet. 6:1457-1464(1997) PubMed=16281286; DOI=10.1002/humu.20258 Lisa C. Worgan, Kirsten Niles, Jamie C. Tirone, Adam Hofmann, Andrei Verner, Alya'a Sammak, Terrence Kucic, Pierre Lepage, David S. Rosenblatt; Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum. Mutat. 27:31-43(2006)
Encyclopedic resources	Wikidata; Q110434043
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5