Cellosaurus cell line WG1611 (CVCL

Cellosaurus WG1611 (CVCL_QZ11)

Cross-references
Cell line name	WG1611
Synonyms	WG 1611
Accession	CVCL_QZ11
Resource Identification Initiative	To cite this cell line use: WG1611 (RRID:CVCL_QZ11)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. 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.Gly717Val (c.2150G>T); ClinVar=VCV000001881; Zygosity=Heterozygous (PubMed=7909321; 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	PubMed=7909321; DOI=10.1172/JCI117166; PMCID=PMC294249 Amber A. Qureshi, Ana M. Crane, Nora V. Matiaszuk, Iraj Rezvani, Fred D. Ledley, David S. Rosenblatt; Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. J. Clin. Invest. 93:1812-1819(1994) 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; Q54993901
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11