Cellosaurus cell line WG2711 (CVCL

Cellosaurus WG2711 (CVCL_B3XE)

Cross-references
Cell line name	WG2711
Accession	CVCL_B3XE
Resource Identification Initiative	To cite this cell line use: WG2711 (RRID:CVCL_B3XE)
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:24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (PubMed=19370762). Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Tyr130Cys (c.389A>G); ClinVar=VCV000297484; Zygosity=Heterozygous (PubMed=19370762).
Disease	Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174) Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling	Children
Category	Finite cell line
Publications	PubMed=19370762; DOI=10.1002/humu.21001 Jordan P. Lerner-Ellis, Natascia Anastasio, Jun-Hui Liu, David Coelho, Terttu Suormala, Martin Stucki, Amanda D. Loewy, Scott Gurd, Elin Grundberg, Chantal F. Morel, David Watkins ...Show all 15 authors... , Matthias R. Baumgartner, Tomi Pastinen, David S. Rosenblatt, Brian Fowler; Show fewer authors Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum. Mutat. 30:1072-1081(2009)
Encyclopedic resources	Wikidata; Q110434191
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5